A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies. A 1.5-Mb deletion in chromosome 17p11.2-p12 has been associated with HNPP. Duplication of the same 1.5-Mb region is known to be associated with Charcot-Marie...

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Detalhes bibliográficos
Main Authors: Lorenzetti, D, Pareyson, D, Sghirlanzoni, A, Roa, B B, Abbas, N E, Pandolfo, M, Di Donato, S, Lupski, J R
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801301/
https://ncbi.nlm.nih.gov/pubmed/7825607
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