共 50 条
- [41] Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2 Journal of Human Genetics, 2017, 62 : 703 - 709
- [43] A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III Journal of Human Genetics, 2014, 59 : 42 - 45
- [46] Mutation analysis of the PKD1 gene in patients with adult dominant polycystic kidney disease NEFROLOGIA, 1998, 18 (05): : 382 - 388