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The importance of genetic diagnosis for Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper...

詳細記述

保存先:
書誌詳細
出版年:J Med Genet
主要な著者: Aartsma-Rus, Annemieke, Ginjaar, Ieke B, Bushby, Kate
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4789806/
https://ncbi.nlm.nih.gov/pubmed/26754139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103387
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