Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.

Charcot-Marie-Tooth disease type 1 (CMT1) is a peripheral neuropathy characterised by progressive distal muscular atrophy and sensory loss with markedly decreased nerve conduction velocity, mostly inherited as an autosomal dominant trait. The most common form, type 1A, is associated with a 1.5Mb DNA...

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Bibliografiska uppgifter
Huvudupphovsmän: Schiavon, F, Mostacciuolo, M L, Saad, F, Merlini, L, Siciliano, G, Angelini, C, Danieli, G A
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1994
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016664/
https://ncbi.nlm.nih.gov/pubmed/7853375
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