| http://purl.uniprot.org/citations/9326933 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9326933 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9326933 | http://www.w3.org/2000/01/rdf-schema#comment | "Juvenile nephronophthisis (NPH), an autosomal recessive cystic kidney disease, is the primary genetic cause of chronic renal failure in children. About two thirds of patients with NPH carry a large homozygous deletion at the gene locus NPH1 on 2q13. We here identify a novel gene. NPHP1, which extends over most of this common deletion. The 4.5-kb transcript encodes a protein with an SH3 domain, which is highly conserved throughout evolution. The 11-kb interval between the 3' end of NPHP1 and an inverted repeat containing the distal deletion breakpoint was found to contain the first exon of a second gene, MALL. In patients with a hemizygous deletion of the NPH1 region, additional point mutations were found in NPHP1 but not in MALL."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1097-149"xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1097-149"xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Rensing C."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Rensing C."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Hildebrandt F."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Hildebrandt F."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Otto E."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Otto E."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Nothwang H.G."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Nothwang H.G."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Vollmer M."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Vollmer M."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Brandis M."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Brandis M."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Adolphs J."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Adolphs J."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Hanusch H."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/author | "Hanusch H."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/9326933 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |