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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...

詳細記述

保存先:
書誌詳細
主要な著者: Jacobs, Patricia A., Hunt, Patricia A., Mayer, Martha, Bart, Robert D.
フォーマット: Artigo
言語:Inglês
出版事項: 1981
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685082/
https://ncbi.nlm.nih.gov/pubmed/7258185
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