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Duchenne muscular dystrophy (DMD) in a female with an X/autosomal translocation: Further evidence that the DMD locus is at Xp21

An isolated case of Duchenne muscular dystrophy in a female who has a de novo t(X;5)(p21;q35) translocation is described. The similarities between this patient and four previously reported females with Duchenne muscular dystrophy are discussed. It is concluded that the locus for Duchenne muscular dy...

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Bibliografiske detaljer
Main Authors: Jacobs, Patricia A., Hunt, Patricia A., Mayer, Martha, Bart, Robert D.
Format: Artigo
Sprog:Inglês
Udgivet: 1981
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685082/
https://ncbi.nlm.nih.gov/pubmed/7258185
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