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Article

High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey.

Archivos argentinos de pediatria - 1 Apr 2015

Uluca Ünal, Ece Aydın, Şen Velat, Coşkun Salih, Güneş Ali, Yel Servet, Tan İlhan, Karabel Müsemma, Şahin Cahit

Abstract excerpt

OBJECTIVE: The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. METHODS: A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms...

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Identifiers

PMID: 25727825
DOI: 10.5546/aap.2015.eng.133

Genes

MEFV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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