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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Vydáno v:Ann Clin Transl Neurol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2016
Témata:
Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5099531/
https://ncbi.nlm.nih.gov/pubmed/27844031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.347
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