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...
Topics
- Africa, Northern
- DNA Mutational Analysis
- Familial Mediterranean Fever
- Genotype
- Homozygote
- Humans
- Iraq
- Jews
- Mutation
- Phenotype
- Prognosis