| http://purl.uniprot.org/citations/9668175 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9668175 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9668175 | http://www.w3.org/2000/01/rdf-schema#comment | "Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurring attacks of fever and serositis. It affects primarily North African Jews, Armenians, Turks and Arabs, in which a founder effect has been demonstrated. The marenostrin-pyrin-encoding gene has been proposed as a candidate gene for the disease ( MEFV ), on the basis of the identification of putative mutations clustered in exon 10 (M680V, M694I, M694V and V726A), each segregating with one ancestral haplotype. In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). Except for E148Q and K695R, all mutations were found in a single chromosome. Mutation E148Q was found in all ethnic groups studied and in association with a novel ancestral haplotype in non-Ashkenazi Jews (S2). Altogether, these new findings definitively establish the marenostrin/pyrin-encoding gene as the MEFV locus."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/7.8.1317"xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/7.8.1317"xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Cruaud C."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Cruaud C."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Petit J.-L."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Petit J.-L."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Weissenbach J."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Weissenbach J."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Demaille J."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Demaille J."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Delpech M."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Delpech M."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Bernot A."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Bernot A."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Castet V."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Castet V."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Nedelec B."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Nedelec B."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "da Silva C."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "da Silva C."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Cattan D."xsd:string |
| http://purl.uniprot.org/citations/9668175 | http://purl.uniprot.org/core/author | "Cattan D."xsd:string |