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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Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Wise, C A, Garcia, C A, Davis, S N, Heju, Z, Pentao, L, Patel, P I, Lupski, J R
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1993
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682385/
https://ncbi.nlm.nih.gov/pubmed/8105684
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