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Article

Compound heterozygosity for three common MEFV mutations in a highly consanguineous family with familial Mediterranean fever.

European journal of pediatrics - 1 Jul 2008

Seidel H, Steinlein O K

Abstract excerpt

Consanguinity is not the only factor influencing the occurrence of autosomal recessive disorders such as familial Mediterranean fever (FMF). The extended, multiple consanguineous Turkish pedigree presented here demonstrates that the population frequency of certain mutations (so-called "ancient" mutations) can be at least equally important. In high-risk populations different combinations of mutations can occur...

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Source

Identifiers

PMID: 17676340
DOI: 10.1007/s00431-007-0572-2

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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