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Familial Mediterranean fever with a single MEFV mutation: Where is the second hit?

OBJECTIVE: FMF has traditionally been considered an autosomal recessive disease; however, it has been observed that a substantial number of patients with clinical FMF possess only one demonstrable MEFV mutation. Here, an extensive search for a second MEFV mutation was performed in 46 patients clinic...

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Main Authors: Booty, Matthew G., Chae, Jae Jin, Masters, Seth L., Remmers, Elaine F., Barham, Beverly, Lee, Julie M., Barron, Karyl S., Holland, Steve, Kastner, Daniel L., Aksentijevich, Ivona
格式: Artigo
語言:Inglês
出版: 2009
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2753538/
https://ncbi.nlm.nih.gov/pubmed/19479870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.24569
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