Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant neuropathies, associated, respectively, with duplications and deletions of the same 1.5-Mb region on 17p11.2-p12. These two rearrangements are the reciprocal product...

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Detalhes bibliográficos
Main Authors: Lopes, J., LeGuern, E., Gouider, R., Tardieu, S., Abbas, N., Birouk, N., Gugenheim, M., Bouche, P., Agid, Y., Brice, A.
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915048/
https://ncbi.nlm.nih.gov/pubmed/8651299
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