Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease
INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, vol.21, no.10, pp.1857-1862, 2018 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 21 Issue: 10
- Publication Date: 2018
- Doi Number: 10.1111/1756-185x.12929
- Journal Name: INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.1857-1862
- Keywords: familial Mediterranean fever, E148Q, MEFV gene, variant of unknown significance, MEFV GENE, MUTATION, FREQUENCY, FMF, DIAGNOSIS, COLCHICINE, CRITERIA, CHILDREN, TURKEY, PYRIN
- Hacettepe University Affiliated: Yes
Abstract
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.