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- [31] A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophyEye, 2012, 26 : 866 - 871L Zhao论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyS Grob论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyR Corey论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyM Krupa论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyJ Luo论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyH Du论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyC Lee论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyG Hughes论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyJ Lee论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyJ Quach论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyJ Zhu论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyP X Shaw论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyI Kozak论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of OphthalmologyK Zhang论文数: 0 引用数: 0 h-index: 0机构: West China Hospital,Molecular Medicine Research Center and Department of Ophthalmology
- [32] Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive BestrophinopathyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (12)Shi, Jie论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R ChinaTian, Lu论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R ChinaSun, Tengyang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R ChinaZhang, Xiao论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R ChinaXu, Ke论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R ChinaXie, Yue论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R ChinaPeng, Xiaoyan论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R ChinaTang, Xin论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R ChinaJin, Zi-Bing论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R ChinaLi, Yang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China Capital Med Univ, Beijing Ophthalmol & Visual Sci Key Lab, Beijing Tongren Hosp, Beijing Inst Ophthalmol,Beijing Tongren Eye Ctr, Beijing, Peoples R China
- [33] Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 MutationINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (08) : 4619 - 4630Johnson, Adiv A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USA Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USABachman, Lori A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USA Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USAGilles, Benjamin J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USA Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USACross, Samuel D.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USA Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USAStelzig, Kimberly E.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Regenerat Med, Rochester, MN 55905 USA Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USAResch, Zachary T.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Regenerat Med, Rochester, MN 55905 USA Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USAMarmorstein, Lihua Y.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USA Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USAPulido, Jose S.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USA Mayo Clin, Dept Mol Med, Rochester, MN 55905 USA Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USAMarmorstein, Alan D.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USA Mayo Clin, Dept Ophthalmol, Rochester, MN 55905 USA
- [34] NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHYRETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2018, 38 (02): : 379 - 386Khan, Kamron N.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Med Retina Serv, London, England St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol, Leeds, W Yorkshire, England UCL, Inst Ophthalmol, London, EnglandIslam, Farrah论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Med Retina Serv, London, England UCL, Inst Ophthalmol, London, EnglandHolder, Graham E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Med Retina Serv, London, England UCL, Inst Ophthalmol, London, EnglandRobson, Anthony论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Med Retina Serv, London, England UCL, Inst Ophthalmol, London, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Med Retina Serv, London, England UCL, Inst Ophthalmol, London, EnglandMoore, Anthony T.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Med Retina Serv, London, England Univ Calif San Francisco, Sch Med, Dept Ophthalmol, San Francisco, CA USA UCL, Inst Ophthalmol, London, EnglandMichaelides, Michel论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Med Retina Serv, London, England UCL, Inst Ophthalmol, London, England
- [35] Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)EXPERIMENTAL EYE RESEARCH, 2007, 85 (01) : 34 - 43Bakall, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USARadu, R. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USAStanton, J. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USABurke, J. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USAMckay, B. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USAWadelius, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USAMullins, R. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USAStone, E. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USATravis, G. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USAMarmorstein, A. D.论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USA Univ Arizona, Dept Ophthalmol & Vis Sci, Tucson, AZ 85724 USA
- [36] Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive BestrophinopathyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2011, 52 (06) : 3730 - 3736Davidson, Alice E.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, England Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, EnglandMillar, Ian D.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Life Sci, Manchester M13 9WL, Lancs, England Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, EnglandBurgess-Mullan, Rosemary论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, England Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, EnglandMaher, Geoffrey J.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, England Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, EnglandUrquhart, Jill E.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Nat Genet Reference Lab, Manchester M13 0JH, Lancs, England Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, EnglandBrown, Peter D.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Life Sci, Manchester M13 9WL, Lancs, England Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, EnglandBlack, Graeme C. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, England Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Royal Eye Hosp, Manchester, Lancs, England Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, EnglandManson, Forbes D. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, England Univ Manchester, Cent Manchester Univ Hosp, NHS Fdn Trust, Manchester Acad Hlth Sci Ctr,Sch Biomed, Manchester M13 9WL, Lancs, England
- [37] Clinical evaluation of two consanguineous families with homozygous mutations in BEST1MOLECULAR VISION, 2011, 17 (179): : 1607 - 1617Pineiro-Gallego, Teresa论文数: 0 引用数: 0 h-index: 0机构: Univ Vigo, Dept Bioquim Genet & Inmunol, Fac Biol, Vigo 36310, Spain Univ Vigo, Dept Bioquim Genet & Inmunol, Fac Biol, Vigo 36310, SpainAlvarez, Maria论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Univ Vigo, Serv Oftalmol, Vigo, Spain Univ Vigo, Dept Bioquim Genet & Inmunol, Fac Biol, Vigo 36310, SpainPereiro, Ines论文数: 0 引用数: 0 h-index: 0机构: Univ Vigo, Dept Bioquim Genet & Inmunol, Fac Biol, Vigo 36310, Spain Univ Vigo, Dept Bioquim Genet & Inmunol, Fac Biol, Vigo 36310, SpainCampos, Severiano论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Univ Vigo, Serv Oftalmol, Vigo, Spain Univ Vigo, Dept Bioquim Genet & Inmunol, Fac Biol, Vigo 36310, SpainSharon, Dror论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Dept Ophthalmol, Med Ctr, Jerusalem, Israel Univ Vigo, Dept Bioquim Genet & Inmunol, Fac Biol, Vigo 36310, SpainSchatz, Patrik论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Ophthalmol, Univ Lund Hosp, S-22100 Lund, Sweden Kennedy Ctr, Natl Eye Clin, Glostrup, Denmark Univ Copenhagen, Dept Ophthalmol, Glostrup Hosp, DK-1168 Copenhagen, Denmark Univ Vigo, Dept Bioquim Genet & Inmunol, Fac Biol, Vigo 36310, SpainValverde, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Vigo, Dept Bioquim Genet & Inmunol, Fac Biol, Vigo 36310, Spain Univ Vigo, Dept Bioquim Genet & Inmunol, Fac Biol, Vigo 36310, Spain
- [38] NOVEL AND HOMOZYGOUS BEST1 MUTATIONS IN CHINESE PATIENTS WITH BEST VITELLIFORM MACULAR DYSTROPHYRETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2010, 30 (05): : 820 - 827Wong, Raymond L. M.论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R ChinaHou, Ping论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R ChinaChoy, Kwong-Wai论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Obstet & Gynecol, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R ChinaChiang, Sylvia W. Y.论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R ChinaTam, Pancy O. S.论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R ChinaLi, Haitao论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R ChinaChan, Wai-Man论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R ChinaLam, Dennis S. C.论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R ChinaPang, Chi-Pui论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R ChinaLai, Timothy Y. Y.论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Kowloon, Hong Kong, Peoples R China
- [39] Identification of 5 novel mutations causing autosomal recessive bestrophinopathy (ARB)JOURNAL OF MEDICAL GENETICS, 2009, 46 : S43 - S43Shweikh, Yusrah论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, England St Marys Hosp, Reg Genet Serv, Manchester, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, EnglandDavidson, A. E.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, England St Marys Hosp, Reg Genet Serv, Manchester, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, EnglandMiller, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Life Sci, Manchester M13 9PL, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, EnglandBrown, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Life Sci, Manchester M13 9PL, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, EnglandWebster, A. R.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London, England St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, EnglandManson, F. D. C.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, England St Marys Hosp, Reg Genet Serv, Manchester, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, EnglandBlack, G. C. M.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, England St Marys Hosp, Reg Genet Serv, Manchester, Lancs, England St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, England
- [40] An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 PolymorphismJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (07) : 1650 - 1655Megarbane, Hala论文数: 0 引用数: 0 h-index: 0机构: Balamand Univ, St Georges Hosp, Dept Dermatol, Beirut, Lebanon Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon CEA, Inst Genom, Ctr Natl Genotypage, Evry, FranceFlorence, Jobard论文数: 0 引用数: 0 h-index: 0机构: CEA, Inst Genom, Ctr Natl Genotypage, Evry, France CEA, Inst Genom, Ctr Natl Genotypage, Evry, FranceSass, Joern Oliver论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg Klinikum, Zentrum Kinder & Jugendmed, Labor Klin Biochem & Stoffwechsel, Freiburg, Germany CEA, Inst Genom, Ctr Natl Genotypage, Evry, FranceSchwonbeck, Susanne论文数: 0 引用数: 0 h-index: 0机构: CEA, Inst Genom, Ctr Natl Genotypage, Evry, France CEA, Inst Genom, Ctr Natl Genotypage, Evry, FranceFoglio, Mario论文数: 0 引用数: 0 h-index: 0机构: CEA, Inst Genom, Ctr Natl Genotypage, Evry, France CEA, Inst Genom, Ctr Natl Genotypage, Evry, Francede Cid, Rafael论文数: 0 引用数: 0 h-index: 0机构: CEA, Inst Genom, Ctr Natl Genotypage, Evry, France CEA, Inst Genom, Ctr Natl Genotypage, Evry, FranceCure, Susan论文数: 0 引用数: 0 h-index: 0机构: CEA, Inst Genom, Ctr Natl Sequencage, Evry, France CEA, Inst Genom, Ctr Natl Genotypage, Evry, FranceSaker, Safa论文数: 0 引用数: 0 h-index: 0机构: Genethon, Evry, France CEA, Inst Genom, Ctr Natl Genotypage, Evry, FranceMegarbane, Andre论文数: 0 引用数: 0 h-index: 0机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon Inst Jerome Lejeune, Paris, France CEA, Inst Genom, Ctr Natl Genotypage, Evry, FranceFischer, Judith论文数: 0 引用数: 0 h-index: 0机构: CEA, Inst Genom, Ctr Natl Genotypage, Evry, France CEA, Inst Genom, Ctr Natl Genotypage, Evry, France