A novel nonsense mutation of ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria

2014 ◽  
Vol 28 (12) ◽  
pp. 1832-1833 ◽  
Author(s):  
Q.-Y. Wu ◽  
W.-W. Li ◽  
N. Li ◽  
T.-F. Li ◽  
C. Zhang ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Chinese Patient ◽  
Dyschromatosis Symmetrica Hereditaria

scholarly journals A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient

2015 ◽  
Vol 81 (3) ◽  
pp. 327
Author(s):  
Cheng-Rang Li ◽  
Zhi-Liang Li ◽  
Guo-Yi Zhang ◽  
Yun Hui ◽  
Rui-Xing Yu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Patient ◽  
Dyschromatosis Symmetrica Hereditaria

A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria

2014 ◽  
Vol 93 (2) ◽  
pp. 523-525 ◽  
Author(s):  
WEI-WEI LI ◽  
QIU-YUE WU ◽  
NA LI ◽  
DE-QUAN DENG ◽  
RU-SONG ZHANG ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Deletion Mutation ◽  
Dyschromatosis Symmetrica Hereditaria

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

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

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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