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Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. One form of CMT, CMT type 1A, is characterized by uniformly decreased nerve conduction velocities, usually shows autosomal dominant inheritance, and is associated with a large submicroscopic duplication of the p11....

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Detalhes bibliográficos
Main Authors: Wise, C A, Garcia, C A, Davis, S N, Heju, Z, Pentao, L, Patel, P I, Lupski, J R
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682385/
https://ncbi.nlm.nih.gov/pubmed/8105684
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