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Article

Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).

European journal of human genetics : EJHG - 1 Jan 1998

Dewalle M, Domingo C, Rozenbaum M, Ben-Chétrit E, Cattan D, Bernot A, Dross C, Dupont M, Notarnicola C, Levy M, Rosner I, Demaille J, Touitou I

Abstract excerpt

Familial Mediterranean Fever is one of the most frequent recessive disease in non-Ashkenazi Jews. The gene responsible for the disease (MEFV) has very recently been identified. The M694V ('MED') mutation was found in about 80% of the FMF Jewish (Iraqi and North African) chromosomes. To see if the presence of this mutation could be correlated with particular traits of the disease, we examined a number of clinical...

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Identifiers

PMID: 9781020
DOI: 10.1038/sj.ejhg.5200170

Genes

MEFV

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