A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review

2014 ◽  
Vol 53 (8) ◽  
pp. e375-e379 ◽  
Author(s):  
Yanhua H. Liang ◽  
Qingxiu X. Liu ◽  
Liang Huang ◽  
Kang Zeng
Keyword(s):  
Literature Review ◽  
Chinese Family ◽  
Palmoplantar Keratoderma

Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

Dermatology ◽  
2013 ◽  
Vol 226 (1) ◽  
pp. 68-74 ◽  
Author(s):  
Shuang Wang ◽  
Chen Tu ◽  
Yiguo Feng ◽  
Xiaopeng Wang ◽  
Dingwei Zhang ◽  
...  
Keyword(s):  
Literature Review ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

A novel missense mutation of $$\textit{ADAR1}$$ ADAR 1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review

2017 ◽  
Vol 96 (6) ◽  
pp. 1021-1026
Author(s):  
Shuai-Mei Liu ◽  
Meng-Xia Ni ◽  
Ming-Chao Zhang ◽  
Pei-Ran Zhu ◽  
Qiu-Yu Wu ◽  
...  
Keyword(s):  
Literature Review ◽  
Missense Mutation ◽  
Chinese Family ◽  
Dyschromatosis Symmetrica Hereditaria

Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma

2011 ◽  
Vol 21 (2) ◽  
pp. 268-269 ◽  
Author(s):  
Yue-Ping ZENG ◽  
Wan-Xin CHAI ◽  
Kai FANG ◽  
Bao-Xi WANG ◽  
Ya-Gang ZUO
Keyword(s):  
Chinese Family ◽  
Palmoplantar Keratoderma

scholarly journals A Novel 5-bp Deletion Mutation in AAGAB Gene in a Chinese Family with Punctate Palmoplantar Keratoderma

2014 ◽  
Vol 94 (3) ◽  
pp. 339-340 ◽  
Author(s):  
M Li ◽  
X Dai ◽  
R Cheng ◽  
L Yang ◽  
Z Yao ◽  
...  
Keyword(s):  
Deletion Mutation ◽  
Chinese Family ◽  
Palmoplantar Keratoderma

scholarly journals Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review

Seizure ◽  
2018 ◽  
Vol 57 ◽  
pp. 80-86 ◽  
Author(s):  
Wo-Tu Tian ◽  
Xiao-Li Liu ◽  
Yang-Qi Xu ◽  
Xiao-Jun Huang ◽  
Hai-Yan Zhou ◽  
...  
Keyword(s):  
Renal Failure ◽  
Literature Review ◽  
Novel Mutation ◽  
Chinese Family ◽  
Progressive Myoclonus Epilepsy ◽  
Myoclonus Epilepsy
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