The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.

X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). Using the SSCP technique and direct sequencing of PCR amplified genomic DNA fragments of the Cx32 gene from a Moroccan patient and her relatives, we identified...

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Autores principales: Meggouh, F, Benomar, A, Rouger, H, Tardieu, S, Birouk, N, Tassin, J, Barhoumi, C, Yahyaoui, M, Chkili, T, Brice, A, LeGuern, E
Formato: Artigo
Lenguaje:Inglês
Publicado: 1998
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051253/
https://ncbi.nlm.nih.gov/pubmed/9541114
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