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

The X-linked form of Charcot–Marie–Tooth disease (CMTX) is the second most common form of this genetically heterogeneous inherited peripheral neuropathy. CMT1X is caused by mutations in the GJB1 gene. Most of the mutations causative for CMT1X are missense mutations. In addition, a few disease causat...

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Bibliographic Details
Published in:Neurogenetics
Main Authors: Gonzaga-Jauregui, Claudia, Zhang, Feng, Towne, Charles F., Batish, Sat Dev, Lupski, James R.
Format: Artigo
Language:Inglês
Published: 2010
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4222676/
https://ncbi.nlm.nih.gov/pubmed/20532933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-010-0247-4
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