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- [31] A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencerINTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2018, 11 (01) : 31 - 35Zheng, Yu论文数: 0 引用数: 0 h-index: 0机构: Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R China BGI Shenzhen, Shenzhen 518083, Peoples R China BGI Shenzhen, China Natl GeneBank, Shenzhen 518120, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaWang, Hai-Lin论文数: 0 引用数: 0 h-index: 0机构: Fourth Peoples Hosp Shenyang, Shenyang 110031, Liaoning, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaLi, Jian-Kang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China BGI Shenzhen, China Natl GeneBank, Shenzhen 518120, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaXu, Li论文数: 0 引用数: 0 h-index: 0机构: Fourth Peoples Hosp Shenyang, Shenyang 110031, Liaoning, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaTellier, Laurent论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China BGI Shenzhen, China Natl GeneBank, Shenzhen 518120, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaLi, Xiao-Lin论文数: 0 引用数: 0 h-index: 0机构: Fourth Peoples Hosp Shenyang, Shenyang 110031, Liaoning, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaHuang, Xiao-Yan论文数: 0 引用数: 0 h-index: 0机构: Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R China BGI Shenzhen, Shenzhen 518083, Peoples R China BGI Shenzhen, China Natl GeneBank, Shenzhen 518120, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaLi, Wei论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China BGI Shenzhen, China Natl GeneBank, Shenzhen 518120, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaNiu, Tong-Tong论文数: 0 引用数: 0 h-index: 0机构: Fourth Peoples Hosp Shenyang, Shenyang 110031, Liaoning, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaYang, Huan-Ming论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China James D Watson Inst Genome Sci, Hangzhou 310058, Zhejiang, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaZhang, Jian-Guo论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China BGI Shenzhen, China Natl GeneBank, Shenzhen 518120, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaLiu, Dong-Ning论文数: 0 引用数: 0 h-index: 0机构: Fourth Peoples Hosp Shenyang, Shenyang 110031, Liaoning, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R China
- [32] Identification of novel mutations in the PRPF31 gene (RP11) in patients with autosomal dominant retinitis pigmentosa with reduced penetranceINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U169 - U169McGee, TL论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Ocular Mol Genet Inst, Boston, MA USABerson, EL论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Ocular Mol Genet Inst, Boston, MA USADryja, TP论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Ocular Mol Genet Inst, Boston, MA USA
- [33] Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosaNATURE COMMUNICATIONS, 2018, 9Buskin, Adriana论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandZhu, Lili论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandChichagova, Valeria论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBasu, Basudha论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Leeds Inst Med Res, Beckett St, Leeds LS9 7TF, W Yorkshire, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMozaffari-Jovin, Sina论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Dept Cellular Biochem, Fassberg 11, D-37077 Gottingen, Germany Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandDolan, David论文数: 0 引用数: 0 h-index: 0机构: Univ Durham, Dept Biol Sci, South Rd, Durham DH1 3LE, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandDroop, Alastair论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, MRC Med Bioinformat Ctr, Clarendon Way, Leeds LS2 9JT, W Yorkshire, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandCollin, Joseph论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBronstein, Revital论文数: 0 引用数: 0 h-index: 0机构: Mass Eye & Ear & Harvard Med Sch, Ocular Genom Inst, 243 Charles St, Boston, MA 02114 USA Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMehrotra, Sudeep论文数: 0 引用数: 0 h-index: 0机构: Mass Eye & Ear & Harvard Med Sch, Ocular Genom Inst, 243 Charles St, Boston, MA 02114 USA Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandFarkas, Michael论文数: 0 引用数: 0 h-index: 0机构: SUNY Buffalo, Jacobs Sch Med & Biomed Sci, Dept Ophthalmol, 955 Main St, Buffalo, NY 14203 USA SUNY Buffalo, Jacobs Sch Med & Biomed Sci, Dept Biochem, 955 Main St, Buffalo, NY 14203 USA Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandHilgen, Gerrit论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Med Sch, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandWhite, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Med Sch, Electron Microscopy Res Serv, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandPan, Kuan-Ting论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Dept Cellular Biochem, Fassberg 11, D-37077 Gottingen, Germany Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England论文数: 引用数: h-index:机构:Hallam, Dean论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandBialas, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandChung, Git论文数: 0 引用数: 0 h-index: 0机构: NUPPA, Devonshire Bldg,Devonshire Terrace, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMellough, Carla论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandDing, Yuchun论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Comp, Interdisciplinary Comp & Complex Biosyst ICOS Res, Urban Sci Bldg,1 Sci Sq, Newcastle Upon Tyne NE4 5TG, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandKrasnogor, Natalio论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Sch Comp, Interdisciplinary Comp & Complex Biosyst ICOS Res, Urban Sci Bldg,1 Sci Sq, Newcastle Upon Tyne NE4 5TG, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandPrzyborski, Stefan论文数: 0 引用数: 0 h-index: 0机构: Univ Durham, Dept Biol Sci, South Rd, Durham DH1 3LE, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandZwolinski, Simon论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandAl-Aama, Jumana论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Princess Al Jawhara Al Brahim Ctr Excellence Res, 7393 Al Malaeb St, Jeddah 22252, Saudi Arabia Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandAlharthi, Sameer论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Princess Al Jawhara Al Brahim Ctr Excellence Res, 7393 Al Malaeb St, Jeddah 22252, Saudi Arabia Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandXu, Yaobo论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandWheway, Gabrielle论文数: 0 引用数: 0 h-index: 0机构: Univ W England, Ctr Res Biosci, Frenchay Campus,Coldharbour Lane, Bristol BS16 1QY, Avon, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSzymanska, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Leeds Inst Med Res, Beckett St, Leeds LS9 7TF, W Yorkshire, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandMcKibbin, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Leeds Inst Med Res, Beckett St, Leeds LS9 7TF, W Yorkshire, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandInglehearn, Chris F.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Leeds Inst Med Res, Beckett St, Leeds LS9 7TF, W Yorkshire, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandElliott, David J.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandLindsay, Susan论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandAli, Robin R.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Ophthalmol, 11-43 Bath St, London EC1V 9EL, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSteel, David H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandArmstrong, Lyle论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandSernagor, Evelyne论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Med Sch, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandUrlaub, Henning论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Bioanalyt Mass Spectrometry Grp, Fassberg 11, D-37077 Gottingen, Germany Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandPierce, Eric论文数: 0 引用数: 0 h-index: 0机构: Mass Eye & Ear & Harvard Med Sch, Ocular Genom Inst, 243 Charles St, Boston, MA 02114 USA Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandLuehrmann, Reinhard论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Dept Cellular Biochem, Fassberg 11, D-37077 Gottingen, Germany Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandGrellscheid, Sushma-Nagaraja论文数: 0 引用数: 0 h-index: 0机构: Univ Durham, Dept Biol Sci, South Rd, Durham DH1 3LE, England Univ Bergen, Dept Biol Sci, Computat Biol Unit, Thormohlensgt 55, N-5008 Bergen, Norway Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandJohnson, Colin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, St Jamess Univ Hosp, Leeds Inst Med Res, Beckett St, Leeds LS9 7TF, W Yorkshire, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandLako, Majlinda论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Cent Pkwy, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
- [34] Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosaNature Communications, 9Adriana Buskin论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineLili Zhu论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineValeria Chichagova论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineBasudha Basu论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineSina Mozaffari-Jovin论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineDavid Dolan论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineAlastair Droop论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineJoseph Collin论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineRevital Bronstein论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineSudeep Mehrotra论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineMichael Farkas论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineGerrit Hilgen论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineKathryn White论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineKuan-Ting Pan论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineAchim Treumann论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineDean Hallam论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineKatarzyna Bialas论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineGit Chung论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineCarla Mellough论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineYuchun Ding论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineNatalio Krasnogor论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineStefan Przyborski论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineSimon Zwolinski论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineJumana Al-Aama论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineSameer Alharthi论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineYaobo Xu论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineGabrielle Wheway论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineKatarzyna Szymanska论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineMartin McKibbin论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineChris F. Inglehearn论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineDavid J. Elliott论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineSusan Lindsay论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineRobin R. Ali论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineDavid H. Steel论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineLyle Armstrong论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineEvelyne Sernagor论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineHenning Urlaub论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineEric Pierce论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineReinhard Lührmann论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineSushma-Nagaraja Grellscheid论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineColin A. Johnson论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic MedicineMajlinda Lako论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Genetic Medicine
- [35] A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencerInternational Journal of Ophthalmology, 2018, (01) : 31 - 35Yu Zheng论文数: 0 引用数: 0 h-index: 0机构: BGI Education Center, University of Chinese Academy of Sciences BGI-Shenzhen China National Gene Bank,BGI-Shenzhen BGI Education Center, University of Chinese Academy of SciencesHai-Lin Wang论文数: 0 引用数: 0 h-index: 0机构: The Fourth People's Hospital of Shenyang BGI Education Center, University of Chinese Academy of SciencesJian-Kang Li论文数: 0 引用数: 0 h-index: 0机构: BGI-Shenzhen China National Gene Bank,BGI-Shenzhen BGI Education Center, University of Chinese Academy of SciencesLi Xu论文数: 0 引用数: 0 h-index: 0机构: The Fourth People's Hospital of Shenyang BGI Education Center, University of Chinese Academy of SciencesLaurent Tellier论文数: 0 引用数: 0 h-index: 0机构: BGI-Shenzhen China National Gene Bank,BGI-Shenzhen BGI Education Center, University of Chinese Academy of SciencesXiao-Lin Li论文数: 0 引用数: 0 h-index: 0机构: The Fourth People's Hospital of Shenyang BGI Education Center, University of Chinese Academy of SciencesXiao-Yan Huang论文数: 0 引用数: 0 h-index: 0机构: BGI Education Center, University of Chinese Academy of Sciences BGI-Shenzhen China National Gene Bank,BGI-Shenzhen BGI Education Center, University of Chinese Academy of SciencesWei Li论文数: 0 引用数: 0 h-index: 0机构: BGI-Shenzhen China National Gene Bank,BGI-Shenzhen BGI Education Center, University of Chinese Academy of SciencesTong-Tong Niu论文数: 0 引用数: 0 h-index: 0机构: The Fourth People's Hospital of Shenyang BGI Education Center, University of Chinese Academy of SciencesHuan-Ming Yang论文数: 0 引用数: 0 h-index: 0机构: BGI-Shenzhen James D.Watson Institute of Genome Sciences BGI Education Center, University of Chinese Academy of SciencesJian-Guo Zhang论文数: 0 引用数: 0 h-index: 0机构: BGI-Shenzhen China National Gene Bank,BGI-Shenzhen BGI Education Center, University of Chinese Academy of SciencesDong-Ning Liu论文数: 0 引用数: 0 h-index: 0机构: The Fourth People's Hospital of Shenyang BGI Education Center, University of Chinese Academy of Sciences
- [36] Expression of precursor RNA processing factor 31 (PRPF31) mRNA in patients with autosomal dominant retinitis pigmentosa: A molecular 'clue' for incomplete penetrance?INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U333 - U333Vithana, EN论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, Dept Mol Genet, London, EnglandAbu-Safieh, L论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, Dept Mol Genet, London, EnglandBird, AC论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, Dept Mol Genet, London, EnglandHunt, DM论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, Dept Mol Genet, London, EnglandBustin, SA论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, Dept Mol Genet, London, EnglandBhattacharya, SS论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol, Dept Mol Genet, London, England
- [37] Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31HUMAN MOLECULAR GENETICS, 2002, 11 (25) : 3209 - 3219Deery, EC论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Div Mol Genet, London EC1V 9EL, EnglandVithana, EN论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Div Mol Genet, London EC1V 9EL, EnglandNewbold, RJ论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Div Mol Genet, London EC1V 9EL, EnglandGallon, VA论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Div Mol Genet, London EC1V 9EL, EnglandBhattacharya, SS论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Div Mol Genet, London EC1V 9EL, EnglandWarren, MJ论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Div Mol Genet, London EC1V 9EL, EnglandHunt, DM论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Div Mol Genet, London EC1V 9EL, EnglandWilkie, SE论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, Div Mol Genet, London EC1V 9EL, England
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