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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Bibliografiset tiedot
Julkaisussa:Hum Genome Var
Päätekijät: Mejtoute, Touhami, Sayel, Hanane, El-Akhal, Jamila, Moufid, Fatima Z., Bouguenouch, Laila, El Bouchikhi, Ihssane, Hida, Mustapha, Couissi, Driss, Ouldim, Karim
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2017
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Article
Linkit: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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