Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF


KARACAN I., UGURLU S., Tolun A., Turanli E., OZDOGAN H.

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, vol.35, no.6, 2017 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 6
  • Publication Date: 2017
  • Journal Name: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Istanbul Technical University Affiliated: Yes

Abstract

Objective. No MEFV mutations are detected in approximately 10% of the patients with clinical FMF in populations where the disease is highly prevalent. Causative mutations were searched in other genes in two such families with "MEFV negative clinical FMF".