High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.

A gene responsible for facioscapulohumeral muscular dystrophy (FSHD) has been localized at 4q35. Subsequently, it was found that probe p13E-11 detects a polymorphic EcoRI fragment, usually > 28 kb, in normal individuals, whereas in sporadic and familial FSHD cases, an EcoRI fragment, usually <...

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Main Authors: Zatz, M, Marie, S K, Passos-Bueno, M R, Vainzof, M, Campiotto, S, Cerqueira, A, Wijmenga, C, Padberg, G, Frants, R
格式: Artigo
語言:Inglês
出版: 1995
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801310/
https://ncbi.nlm.nih.gov/pubmed/7825608
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