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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Meggouh, F, Benomar, A, Rouger, H, Tardieu, S, Birouk, N, Tassin, J, Barhoumi, C, Yahyaoui, M, Chkili, T, Brice, A, LeGuern, E
Format: Artigo
Langue:Inglês
Publié: 1998
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051253/
https://ncbi.nlm.nih.gov/pubmed/9541114
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires