Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations

Journal of Human Genetics

Volumn 55, Issue 6, 2010, Pages 389-393

  Moradian, Mike M ^a,b   Sarkisian, Tamara ^a   Ajrapetyan, Hasmik ^a   Avanesian, Nare ^b  

^a Center of Medical Genetics and Primary Health Care   (Armenia)

^b Department of Medical and Molecular Genetics   (United States)

Author keywords

Armenian; FMF; heterozygous; homozygous; MEFV; pathogenicity; symptoms

Indexed keywords

ABDOMINAL PAIN; AMYLOIDOSIS; ARMENIA; ARTHRALGIA; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; DNA POLYMORPHISM; ERYSIPELAS; ERYSIPELAS ERYTHEMA; EXON; FAMILIAL MEDITERRANEAN FEVER; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MEFV GENE; MUTATIONAL ANALYSIS; MYALGIA; ONSET AGE; PLEURISY; PROBABILITY; GENETICS; HETEROZYGOTE; HETEROZYGOTE DETECTION; PHENOTYPE;

CYTOSKELETON PROTEIN; MARENOSTRIN;

ARMENIA; COHORT STUDIES; CYTOSKELETAL PROTEINS; FAMILIAL MEDITERRANEAN FEVER; GENOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; PHENOTYPE;

EID: 77954159970     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.52     Document Type: Article

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