| http://purl.uniprot.org/citations/11170071 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11170071 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11170071 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the ENG gene on chromosome 9 (HHT 1) and in the ALK-1 gene on chromosome 12 (HHT 2) have been reported as causes of hereditary hemorrhagic telangiectasia (HHT). HHT 1 has been correlated with a higher prevalence of pulmonary arteriovenous malformations than HHT 2. Other distinct phenotype-genotype correlations have not been described. The prevalence of HHT in the county of Fyn, Denmark, was 15.6 per 100,000 on January 1, 1995. All living patients and their first-degree relatives were invited to attend a detailed clinical examination and blood was drawn for mutation analysis. In two families mutations were identified in exon 8 of the ALK-1 gene. In family 6 we found a T1193A mutation. In this family a high prevalence of PAVM and severe GI bleeding was documented, while in family 8 with a C1120T mutation no individuals with PAVM were identified and only one patient had a history of severe GI bleeding. No mutations in the endoglin locus were found in either family."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.org/dc/terms/identifier | "doi:10.1002/1096-8628(20010201)98:4<298::aid-ajmg1093>3.0.co;2-k"xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.org/dc/terms/identifier | "doi:10.1002/1096-8628(20010201)98:4<298::aid-ajmg1093>3.0.co;2-k"xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Kruse T."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Kruse T."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Green A."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Green A."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Brusgaard K."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Brusgaard K."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Kjeldsen A.D."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Kjeldsen A.D."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Poulsen L."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Poulsen L."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Rasmussen K."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Rasmussen K."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Vase P."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/author | "Vase P."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/pages | "298-302"xsd:string |
| http://purl.uniprot.org/citations/11170071 | http://purl.uniprot.org/core/pages | "298-302"xsd:string |