| http://purl.uniprot.org/citations/8696333 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8696333 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8696333 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals of Northern European descent, results in multi-organ dysfunction caused by increased iron deposition, and is treatable if detected early. Using linkage-disequilibrium and full haplotype analysis, we have identified a 250-kilobase region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical-by-descent in 85% of patient chromosomes. Within this region, we have identified a gene related to the MHC class I family, termed HLA-H, containing two missense alterations. One of these is predicted to inactivate this class of proteins and was found homozygous in 83% of 178 patients. A role of this gene in haemochromatosis is supported by the frequency and nature of the major mutation and prior studies implicating MHC class I-like proteins in iron metabolism."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0896-399"xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0896-399"xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Kimmel B.E."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Kimmel B.E."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Moore T."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Moore T."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Lauer P."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Lauer P."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Starnes S.M."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Starnes S.M."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "McClelland E."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "McClelland E."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Jones N.L."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Jones N.L."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Gnirke A."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Gnirke A."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Thomas W."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Thomas W."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Feder J.N."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Feder J.N."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Mintier G.A."xsd:string |
| http://purl.uniprot.org/citations/8696333 | http://purl.uniprot.org/core/author | "Mintier G.A."xsd:string |