Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease

International Journal of Rheumatic Diseases

Volumn 21, Issue 10, 2018, Pages 1857-1862

  Topaloglu, Rezan ^a   Batu, Ezgi Deniz ^a   Yıldız, Çigdem ^a   Korkmaz, Emine ^a   Özen, Seza ^a   Beşbaş, Nesrin ^a   Özaltın, Fatih ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

E148Q; familial Mediterranean fever; MEFV gene; variant of unknown significance

Indexed keywords

COLCHICINE; MEFV PROTEIN, HUMAN; PYRIN;

ABDOMINAL PAIN; ADULT; ARTHRALGIA; ARTHRITIS; ARTICLE; BRUGADA SYNDROME; CHILD; DISEASE SEVERITY; DNA SEQUENCE; E148Q GENE; EXON; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FOLLOW UP; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEFV GENE; NAUSEA AND VOMITING; PRESCHOOL CHILD; PRIORITY JOURNAL; SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS; THORAX PAIN; ADOLESCENT; COMPARATIVE STUDY; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MUTATION; PHENOTYPE; RISK FACTOR; SEVERITY OF ILLNESS INDEX;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COLCHICINE; DNA MUTATIONAL ANALYSIS; EXONS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PHENOTYPE; PYRIN; RISK FACTORS; SEVERITY OF ILLNESS INDEX;

EID: 84989246616     PISSN: 17561841     EISSN: 1756185X     Source Type: Journal    
DOI: 10.1111/1756-185X.12929     Document Type: Article

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