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Menkes disease

Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar ‘kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority o...

詳細記述

保存先:
書誌詳細
主要な著者: Tümer, Zeynep, Møller, Lisbeth B
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2010
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987322/
https://ncbi.nlm.nih.gov/pubmed/19888294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.187
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