Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

Charcot-Marie-Tooth type 1 disease (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system. The majority of CMT1 patients have a 1.5Mb tandem duplication (CMT1A) in chromosome 17p11.2 while most HNPP patients have a d...

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Autors principals: Timmerman, V, Rautenstrauss, B, Reiter, L T, Koeuth, T, Löfgren, A, Liehr, T, Nelis, E, Bathke, K D, De Jonghe, P, Grehl, H, Martin, J J, Lupski, J R, Van Broeckhoven, C
Format: Artigo
Idioma:Inglês
Publicat: 1997
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050846/
https://ncbi.nlm.nih.gov/pubmed/9032649
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