A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family

2010 ◽  
Vol 42 (6) ◽  
pp. 922-926 ◽  
Author(s):  
Pengfei Lin ◽  
Fei Mao ◽  
Qiji Liu ◽  
Wanling Yang ◽  
Changshun Shao ◽  
...  
Keyword(s):  
Han Chinese ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot–Marie–Tooth disease

2019 ◽  
Vol 267 (4) ◽  
pp. 1080-1085 ◽  
Author(s):  
Jun Fu ◽  
Mingming Ma ◽  
Jia Song ◽  
Mi Pang ◽  
Gang Li ◽  
...  
Keyword(s):  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease

2018 ◽  
Vol 23 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Guohua Zhao ◽  
Jie Song ◽  
Mi Yang ◽  
Xiuhua Song ◽  
Xiaomin Liu
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

A novel AIFM1 mutation in a Chinese family with X-linked Charcot–Marie–Tooth disease type 4

2018 ◽  
Vol 28 (8) ◽  
pp. 652-659 ◽  
Author(s):  
Binghao Wang ◽  
Xiaobo Li ◽  
Junpu Wang ◽  
Lei Liu ◽  
Yongzhi Xie ◽  
...  
Keyword(s):  
Disease Type ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

PLoS ONE ◽  
2011 ◽  
Vol 6 (12) ◽  
pp. e29393 ◽  
Author(s):  
Kon-Ping Lin ◽  
Bing-Wen Soong ◽  
Chih-Chao Yang ◽  
Li-Wen Huang ◽  
Ming-Hong Chang ◽  
...  
Keyword(s):  
Han Chinese ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Mutational Spectrum ◽  
Tooth Disease

scholarly journals Case Report A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease

2012 ◽  
Vol 11 (2) ◽  
pp. 1454-1459 ◽  
Author(s):  
Y.W. Wang ◽  
W.T. Han ◽  
M. Jiang ◽  
C.X. Lu ◽  
X.F. Li ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Correction: The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

PLoS ONE ◽  
2012 ◽  
Vol 7 (1) ◽  
Author(s):  
Kon-Ping Lin ◽  
Bing-Wen Soong ◽  
Chih-Chao Yang ◽  
Li-Wen Huang ◽  
Ming-Hong Chang ◽  
...  
Keyword(s):  
Han Chinese ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Mutational Spectrum ◽  
Tooth Disease

scholarly journals Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan

2019 ◽  
Vol 6 (6) ◽  
pp. 1090-1101 ◽  
Author(s):  
Yun‐Hsin Hsu ◽  
Kon‐Ping Lin ◽  
Yuh‐Cherng Guo ◽  
Yu‐Shuen Tsai ◽  
Yi‐Chu Liao ◽  
...  
Keyword(s):  
Han Chinese ◽  
Mutation Spectrum ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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