| http://purl.uniprot.org/citations/12130528 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12130528 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12130528 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. Non-C282Y HH is a heterogeneous group accounting for 15% of HH in Northern Europe. Pathogenic mutations of the transferrin receptor 2 (TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome. The goal of this study was to perform a mutational analysis of the TfR2 and HFE genes in a cohort of non-C282Y iron overload patients of mixed ethnic backgrounds. Several sequence variants were identified within the TfR2 gene, including a homozygous missense change in exon 17, c2069 A-->C, which changes a glutamine to a proline residue at position 690. This putative mutation was found in a severely affected Portuguese man and 2 family members with the same genotype. In summary, pathologic TfR2 mutations are present outside of Italy, accounting for a small proportion of non-C282Y HH."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2002-01-0133"xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2002-01-0133"xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Jones S."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Jones S."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Marra M."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Marra M."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Rodrigues P."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Rodrigues P."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Butterfield Y."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Butterfield Y."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Langlois S."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Langlois S."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Huntsman D."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Huntsman D."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Porto G."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Porto G."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Mattman A."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Mattman A."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Lockitch G."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Lockitch G."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Buskard N."xsd:string |
| http://purl.uniprot.org/citations/12130528 | http://purl.uniprot.org/core/author | "Buskard N."xsd:string |