Muscle pathology in 31 patients with calpain 3 gene mutations
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چکیده
منابع مشابه
MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...
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ژورنال
عنوان ژورنال: Neurologia i Neurochirurgia Polska
سال: 2013
ISSN: 0028-3843
DOI: 10.5114/ninp.2013.35490