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A New Mutation in Blau Syndrome

Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2–13 gene locus. To date, 11 NOD2 gene mut...

詳細記述

保存先:
書誌詳細
出版年:Case Rep Rheumatol
主要な著者: Zeybek, Cengiz, Basbozkurt, Gokalp, Gul, Davut, Demirkaya, Erkan, Gok, Faysal
フォーマット: Artigo
言語:Inglês
出版事項: Hindawi Publishing Corporation 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4322824/
https://ncbi.nlm.nih.gov/pubmed/25692065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/463959
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