scholarly journals A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat‐Wilson syndrome

2020 ◽  
Vol 34 (9) ◽  
Author(s):  
Yuan Hu ◽  
Qi Peng ◽  
Keze Ma ◽  
Siping Li ◽  
Chunbao Rao ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Chinese Patient

Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene

2016 ◽  
Vol 85 ◽  
pp. 56-61 ◽  
Author(s):  
Jing Ma ◽  
Tie-Song Zhang ◽  
Ken Lin ◽  
Hao Sun ◽  
Hong-Chao Jiang ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Chinese Patient ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Sox10 Gene

Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient

2014 ◽  
Vol 25 (3) ◽  
pp. 283-285 ◽  
Author(s):  
Yingyu Wang ◽  
Liqing Zhu ◽  
Lianmin Ye ◽  
Yaosheng Xie ◽  
Jingye Pan ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Chinese Patient ◽  
Factor V ◽  
Factor V Deficiency

Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets

Gene ◽  
2015 ◽  
Vol 565 (1) ◽  
pp. 150-154 ◽  
Author(s):  
Yanru Huang ◽  
Libin Mei ◽  
Qian Pan ◽  
Hu Tan ◽  
Yi Quan ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
De Novo ◽  
Chinese Patient ◽  
Hypophosphatemic Rickets ◽  
Phex Gene

Ataluren: Clinical Trial Results in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
U. Schara ◽  
C. McDonald ◽  
K. Bushby ◽  
M. Tulinius ◽  
R. Finkel ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Clinical Trial Results
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