The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is inherited in an autosomal recessive manner and is caused by mutations in the MEFV gene. As the name indicates, FMF occurs within families and is more common in individuals of Mediterranean descent than in persons of...

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Publicado no:Hum Genome Var
Main Authors: Mejtoute, Touhami, Sayel, Hanane, El-Akhal, Jamila, Moufid, Fatima Z., Bouguenouch, Laila, El Bouchikhi, Ihssane, Hida, Mustapha, Couissi, Driss, Ouldim, Karim
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5494187/
https://ncbi.nlm.nih.gov/pubmed/28690860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.23
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