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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| Publicado no: | J Med Genet |
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| Principais autores: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1992
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| 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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