MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever.
Isr Med Assoc J
; 3(11): 803-4, 2001 Nov.
Article
em En
| MEDLINE
| ID: mdl-11729572
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Febre Familiar do Mediterrâneo
/
Proteínas
/
População Branca
/
Mutação
Limite:
Humans
País/Região como assunto:
Africa
/
Europa
Idioma:
En
Revista:
Isr Med Assoc J
Assunto da revista:
MEDICINA
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
França