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Multiple mutation in an extended Duchenne muscular dystrophy family.

We have investigated an extended pedigree with three cousins affected by Duchenne muscular dystrophy with apparent transmission through the male line. However, molecular studies have shown that one boy has a de novo duplication, another has a deletion, and the molecular mutation has yet to be define...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Miciak, A, Keen, A, Jadayel, D, Bundey, S
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1992
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015852/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1351947/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.2.123
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