Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 479, Issue 1-2, 2001, Pages 235-239

  Timmann, Christian ^a   Muntau, Birgit ^a   Kuhne, Kathrin ^a   Gelhaus, Annette ^a   Horstmann, Rolf D ^a  

^a BERNHARD NOCHT INSTITUTE FOR TROPICAL MEDICINE   (Germany)

Author keywords

Familial Mediterranean fever; FMF; Marenostrin; MEFV; Mutation; Pyrin

Indexed keywords

PROTEIN; PROTEIN E230K; PROTEIN R653H; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILIAL MEDITERRANEAN FEVER; FEMALE; HETEROZYGOSITY; HUMAN; INHERITANCE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CLONING, MOLECULAR; CODON; DNA MUTATIONAL ANALYSIS; EXONS; FAMILIAL MEDITERRANEAN FEVER; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0035828189     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(01)00221-4     Document Type: Article

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