Mutation in connexin 32 causes charcot-marie-tooth disease in a large Chinese family

2010 ◽  
Vol 42 (5) ◽  
pp. 715-721 ◽  
Author(s):  
Fuqiang Guo ◽  
Yi Shi ◽  
Ying Lin ◽  
Xiaoqi Liu ◽  
Bin Liu ◽  
...  
Keyword(s):  
Chinese Family ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

1997 ◽  
Vol 100 (3-4) ◽  
pp. 391-397 ◽  
Author(s):  
K. Silander ◽  
P�ivi Meretoja ◽  
Helena Pihko ◽  
Vesa Juvonen ◽  
Jouni Issakainen ◽  
...  
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Pathogenesis of X-Linked Charcot-Marie-Tooth Disease: Differential Effects of Two Mutations in Connexin 32

2003 ◽  
Vol 23 (33) ◽  
pp. 10548-10558 ◽  
Author(s):  
Charles K. Abrams ◽  
Mona Freidin ◽  
Feliksas Bukauskas ◽  
Kostantin Dobrenis ◽  
Thaddeus A. Bargiello ◽  
...  
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Differential Effects ◽  
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 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

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

scholarly journals GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

Neurogenetics ◽  
2010 ◽  
Vol 11 (4) ◽  
pp. 465-470 ◽  
Author(s):  
Claudia Gonzaga-Jauregui ◽  
Feng Zhang ◽  
Charles F. Towne ◽  
Sat Dev Batish ◽  
James R. Lupski
Keyword(s):  
Connexin 32 ◽  
Gene Deletions ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence

2001 ◽  
Vol 185 (1) ◽  
pp. 31-37 ◽  
Author(s):  
Masanori Nakagawa ◽  
Hiroshi Takashima ◽  
Fujio Umehara ◽  
Kimiyoshi Arimura ◽  
Fumio Miyashita ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Coding Sequence ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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