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

TOPALOĞLU, REZAN; BATU AKAL, EZGİ; Yildiz, Cigdem; Korkmaz, Emine; ÖZEN, SEZA; BEŞBAŞ, NESRİN; ÖZALTIN, FATİH

doi:10.1111/1756-185x.12929

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

TOPALOĞLU R., BATU AKAL E. D., Yildiz C., Korkmaz E., ÖZEN S., BEŞBAŞ N., ...Daha Fazla

INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, cilt.21, sa.10, ss.1857-1862, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 21 Sayı: 10
Basım Tarihi: 2018
Doi Numarası: 10.1111/1756-185x.12929
Dergi Adı: INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1857-1862
Anahtar Kelimeler: familial Mediterranean fever, E148Q, MEFV gene, variant of unknown significance, MEFV GENE, MUTATION, FREQUENCY, FMF, DIAGNOSIS, COLCHICINE, CRITERIA, CHILDREN, TURKEY, PYRIN
Hacettepe Üniversitesi Adresli: Evet

Özet

Aim: Familial Mediterranean fever (FMF) results from MEFV gene mutations. E148Q is a variant of unknown significance in MEFV. We aimed to define characteristics of FMF patients homozygous for E148Q, check for other MEFV variants in a subgroup, and compare the characteristics with FMF patients carrying other mutations.