Clinical and biophysical characterization of 19 GJB1 mutations

OBJECTIVE: Charcot–Marie–Tooth disease type X1 (CMTX1), which is caused by mutations in the gap junction (GJ) protein beta‐1 gene (GJB1), is the second most common form of Charcot–Marie–Tooth disease (CMT). GJB1 encodes the GJ beta‐1 protein (GJB1), which forms GJs within the myelin sheaths of perip...

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Detalles Bibliográficos
Autores principales: Tsai, Pei‐Chien, Yang, De‐Ming, Liao, Yi‐Chu, Chiu, Tai‐Yu, Kuo, Hung‐Chou, Su, Yu‐Ping, Guo, Yuh‐Cherng, Soong, Bing‐Wen, Lin, Kon‐Ping, Liu, Yo‐Tsen, Lee, Yi‐Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099531/
https://www.ncbi.nlm.nih.gov/pubmed/27844031
http://dx.doi.org/10.1002/acn3.347

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099531/
https://www.ncbi.nlm.nih.gov/pubmed/27844031
http://dx.doi.org/10.1002/acn3.347

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