共 44 条
- [31] Novel mutations in tibiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertilityASIAN JOURNAL OF ANDROLOGY, 2007, 9 (06) : 809 - 814Zhang, JieQiu, Shu-DongLi, Sheng-BinZhou, Dang-XiaTian, HongHuo, Yong-WeiGe, LingZhang, Qiu-Yang
- [32] Novel mutations in testis-specific ubiquitin protease 26 gene may cause male infertility and hypogonadismREPRODUCTIVE BIOMEDICINE ONLINE, 2005, 10 (06) : 747 - 754Paduch, DAMielnik, ASchlegel, PN
- [33] Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sitesJOURNAL OF HUMAN GENETICS, 2015, 60 (09) : 467 - 471Straniero, LetiziaRimoldi, ValeriaSolda, GiuliaMauri, LuciaManfredini, EmanuelaAndreucci, ElenaBargiacchi, SaraPenco, SilvanaGesu, Giovanni P.Del Longo, AlessandraPiozzi, ElenaAsselta, RosannaPrimignani, Paola
- [34] Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sitesJournal of Human Genetics, 2015, 60 : 467 - 471Letizia StranieroValeria RimoldiGiulia SoldàLucia MauriEmanuela ManfrediniElena AndreucciSara BargiacchiSilvana PencoGiovanni P GesuAlessandra Del LongoElena PiozziRosanna AsseltaPaola Primignani
- [35] Primers for exon-specific amplification of the KRT5 gene: Identification of novel and recurrent mutations in epidermolysis bullosa simplex patientsJOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 108 (03) : 349 - 353Stephens, KEhrlich, PWeaver, MLe, RSpencer, ASybert, VP
- [36] Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesisEUROPEAN JOURNAL OF ENDOCRINOLOGY, 2005, 152 (02) : 255 - 259Richter-Unruh, AKorsch, EHiort, OHolterhus, PMThemmen, APWudy, SA
- [37] Mutations in a novel kidney-specific gene (TRPM6) cause autosomal recessive hypomagnesemia without hypercalciuria.JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 : 27A - 27ALandau, DWalder, RYShalev, HCarmi, RSheffield, VC
- [38] Splice site mutations of the von Willebrand factor gene cause inframe exon skipping as a novel molecular mechanism in von Willebrand disease type 2A.BLOOD, 2002, 100 (11) : 128A - 128ASchneppenheim, RDrewke, EObser, TOyen, FBudde, U
- [39] Novel germ line mutations in the KRAS2 gene cause Noonan syndrome and deregulate hematopoietic cell growth.BLOOD, 2005, 106 (11) : 458A - 459ASchubbert, SZenker, MRowe, SLBöll, SKlein, Cvan der Burgt, IMusante, LNguyen, HWest, BBollag, GNiemeyer, CMShannon, KMKratz, CR
- [40] Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt diseaseGENOMICS, 1998, 48 (01) : 139 - 142Gerber, SRozet, JMvan de Pol, TJRHoyng, CBMunnich, ABlankenagel, AKaplan, JCremers, FPM