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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

Partial gene deletion is the major cause of mutation leading to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Partial gene duplication has also been recognized in a few cases. We have conducted a survey for duplication in 72 unrelated nondeletion patients, analyzed by Southe...

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Detalhes bibliográficos
Main Authors: Hu, X Y, Ray, P N, Murphy, E G, Thompson, M W, Worton, R G
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683676/
https://ncbi.nlm.nih.gov/pubmed/2316519
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