| http://purl.uniprot.org/citations/11170895 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11170895 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11170895 | http://www.w3.org/2000/01/rdf-schema#comment | "Hemolytic-uremic syndrome (HUS) is a microvasculature disorder leading to microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Most cases of HUS are associated with epidemics of diarrhea caused by verocytotoxin-producing bacteria, but atypical cases of HUS not associated with diarrhea (aHUS) also occur. Early studies describing the association of aHUS with deficiencies of factor H suggested a role for this complement regulator in aHUS. Molecular evidence of factor H involvement in aHUS was first provided by Warwicker et al., who demonstrated that aHUS segregated with the chromosome 1q region containing the factor H gene (HF1) and who identified a mutation in HF1 in a case of familial aHUS with normal levels of factor H. We have performed the mutational screening of the HF1 gene in a novel series of 13 Spanish patients with aHUS who present normal complement profiles and whose plasma levels of factor H are, with one exception, within the normal range. These studies have resulted in the identification of five novel HF1 mutations in four of the patients. Allele HF1 Delta exon2, a genomic deletion of exon 2, produces a null HF1 allele and results in plasma levels of factor H that are 50% of normal. T956M, W1183L, L1189R, and V1197A are missense mutations that alter amino acid residues in the C-terminal portion of factor H, within a region--SCR16-SCR20--that is involved in the binding to solid-phase C3b and to negatively charged cellular structures. This remarkable clustering of mutations in HF1 suggests that a specific dysfunction in the protection of cellular surfaces by factor H is a major pathogenic condition underlying aHUS."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.org/dc/terms/identifier | "doi:10.1086/318201"xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.org/dc/terms/identifier | "doi:10.1086/318201"xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Rodriguez de Cordoba S."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Rodriguez de Cordoba S."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Gallardo M.E."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Gallardo M.E."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Vera M."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Vera M."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Perez-Caballero D."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Perez-Caballero D."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Gonzalez-Rubio C."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Gonzalez-Rubio C."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Lopez-Trascasa M."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Lopez-Trascasa M."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Sanchez-Corral P."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/author | "Sanchez-Corral P."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/pages | "478-484"xsd:string |
| http://purl.uniprot.org/citations/11170895 | http://purl.uniprot.org/core/pages | "478-484"xsd:string |