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Isr Med Assoc J. 2001 Nov;3(11):803-4.

MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever.

Author information

1
Department of Gastroenterology and Hepatology, Central Hospital, Villeneuve St. George, France. gastvsg@clun-internet.fr

Abstract

BACKGROUND:

Familial Mediterranean fever is a genetic disease in which some characteristic gene mutations have been found.

OBJECTIVES:

To analyze the phenotype-genotype correlations in North African Jews and Armenians with FMF.

METHODS:

We studied MEFV gene mutations and phenotype-genotype correlations in North African Jews and Armenians with Familial Mediterranean Fever living in France.

RESULTS:

M694V mutation was the most common mutation in Jews and in Armenians. Patients with M680I homozygosity or M680I/M694V compound heterozygosity had a phenotype as severe as patients with M694V homozygosity.

CONCLUSIONS:

This study characterizes the phenotype-genotype in specific ethnic groups of patients with FMF.

PMID:
11729572
[Indexed for MEDLINE]
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