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Familial Mediterranean fever without MEFV mutations: a case–control study

BACKGROUND: Although familial Mediterranean fever (FMF) was originally defined as an autosomal recessive disorder, approximately 10–20% of FMF patients do not carry any FMF gene (MEFV) mutations. Fine phenotype characterization may facilitate the elucidation of the genetic background of the so calle...

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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: Ben-Zvi, Ilan, Herskovizh, Corinne, Kukuy, Olga, Kassel, Yonatan, Grossman, Chagai, Livneh, Avi
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4377009/
https://ncbi.nlm.nih.gov/pubmed/25887307
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0252-7
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