| http://purl.uniprot.org/citations/12437656 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12437656 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12437656 | http://www.w3.org/2000/01/rdf-schema#comment | "X-linked Hoyeraal-Hreidarsson syndrome (XL-HHS) is the severe infantile variant of X-linked dyskeratosis congenita (XL-DC) and both are due to mutations in the DKC1 gene within Xq28. We report a novel missense mutation in DKC1 exon 3 (T113-->C, Ile38Thr) in a Sardinian infant with XL-HHS in whom the disease was characterized by 'T+B-NK-' severe combined immunodeficiency and bone marrow failure. He underwent sibling bone marrow transplantation using a conditioning regimen (fludarabine, rabbit antithymocyte globulin, low-dose melphalan) selected according to the HHS/DC phenotype. This was associated with low toxicity, prompt engraftment with adequate immune reconstitution and full donor haemopoiesis."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1365-2141.2002.03822.x"xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1365-2141.2002.03822.x"xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Cao A."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Cao A."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Cossu F."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Cossu F."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Dokal I."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Dokal I."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Badiali M."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Badiali M."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Marrone A."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Marrone A."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Vulliamy T.J."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/author | "Vulliamy T.J."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/name | "Br. J. Haematol."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/name | "Br. J. Haematol."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/pages | "765-768"xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/pages | "765-768"xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/title | "A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome."xsd:string |
| http://purl.uniprot.org/citations/12437656 | http://purl.uniprot.org/core/title | "A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome."xsd:string |