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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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Détails bibliographiques
Publié dans:Neurogenetics
Auteurs principaux: Gonzaga-Jauregui, Claudia, Zhang, Feng, Towne, Charles F., Batish, Sat Dev, Lupski, James R.
Format: Artigo
Langue:Inglês
Publié: 2010
Sujets:
Accès en ligne: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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