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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Veröffentlicht in:	J Med Genet
Hauptverfasser:	Lindenbaum, R H, Clarke, G, Patel, C, Moncrieff, M, Hughes, J T
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMJ Publishing Group 1979
Schlagworte:	Research Article
Online-Zugang:	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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