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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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Bibliografiske detaljer
Udgivet i:Neurogenetics
Main Authors: Gonzaga-Jauregui, Claudia, Zhang, Feng, Towne, Charles F., Batish, Sat Dev, Lupski, James R.
Format: Artigo
Sprog:Inglês
Udgivet: 2010
Fag:
Online adgang: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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