Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

We analysed the nerve specific promoter of the peripheral myelin protein 22 gene (PMP22) in a set of 15 unrelated patients with Charcot-Marie-Tooth type 1 disease (CMT1) and 16 unrelated patients with hereditary neuropathy with liability to pressure palsies (HNPP). In these patients no duplication/d...

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Autores principales: Nelis, E, De Jonghe, P, De Vriendt, E, Patel, P I, Martin, J J, Van Broeckhoven, C
Formato: Artigo
Lenguaje:Inglês
Publicado: 1998
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051370/
https://ncbi.nlm.nih.gov/pubmed/9678704
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