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Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.
A unique combination of a Duchenne-like muscular dystrophy in a girl with a translocation-inversion rearrangement involving an X chromosome and a no 1 chromosome appeared as a result of both gene mutation and chromosome mutation in the mother. The X-autosome rearrangement would permit full expressio...
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| Publicado no: | J Med Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1979
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1012616/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/513085/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.16.5.389 |
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