Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease

BACKGROUND: X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. METHODS: We describe two novel mutations in the connexin32 gene in two Norwegian families. RESULTS: Family 1 had a c.22...

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Detalles Bibliográficos
Autores principales: Braathen, Geir J, Sand, Jette C, Bukholm, Geir, Russell, Michael B
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1999495/
https://www.ncbi.nlm.nih.gov/pubmed/17620124
http://dx.doi.org/10.1186/1471-2377-7-19

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