| http://purl.uniprot.org/citations/18802941 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18802941 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18802941 | http://www.w3.org/2000/01/rdf-schema#comment | "Dyskeratosis congenita (DC) is a rare congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancy. DC is genetically heterogeneous and X-linked and autosomal forms of the disease exist. Here, we report the clinical description and mutation analysis of a Russian family with X-linked DC. A novel mutation in DKC1 raised de novo in the maternal grandmother's gamete was found; this mutation is a 2 bp inversion in exon 3: NM_001363:c.166_167invCT (Leu56Ser)."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.org/dc/terms/identifier | "doi:10.1002/pbc.21733"xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.org/dc/terms/identifier | "doi:10.1002/pbc.21733"xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Khachatryan L."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Khachatryan L."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Kurnikova M."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Kurnikova M."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Maschan M."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Maschan M."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Schagina O."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Schagina O."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Shagin D."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Shagin D."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Shagina I."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/author | "Shagina I."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/name | "Pediatr. Blood Cancer"xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/name | "Pediatr. Blood Cancer"xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/pages | "135-137"xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/pages | "135-137"xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/title | "Identification of a novel mutation in DKC1 in dyskeratosis congenita."xsd:string |
| http://purl.uniprot.org/citations/18802941 | http://purl.uniprot.org/core/title | "Identification of a novel mutation in DKC1 in dyskeratosis congenita."xsd:string |