| http://purl.uniprot.org/citations/10627136 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10627136 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10627136 | http://www.w3.org/2000/01/rdf-schema#comment | "Van Hippel-Lindau disease (VHL) is an autosomal dominantly inherited disorder, characterised by the development of clear cell renal carcinomas, CNS hemangioblastomas, retinal angiomas, pancreatic tumors, pheochromocytomas and hepatic cysts. Recently a number of families with dominant familial pheochromocytoma as the only clinical manifestation have been reported to carry mutations in the HVL gene. We describe a family in which a novel VHL S68W mutation was segregating and carrier individuals manifested with variable penetrance of isolated pheochromocytomas. Investigation of this kindred confirmed that a mutation in the VHL gene could produce isolated pheochromocytomas as the only clinical feature and was variably penetrant."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/author | "Martin R."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/author | "Martin R."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/author | "Goldblatt J."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/author | "Goldblatt J."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/author | "Walpole I."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/author | "Walpole I."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/author | "Hockey A."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/author | "Hockey A."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/pages | "71"xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/pages | "71"xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/title | "Variable penetrance of familial pheochromocytoma associated with the von Hippel-Lindau gene mutation, S68W."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/title | "Variable penetrance of familial pheochromocytoma associated with the von Hippel-Lindau gene mutation, S68W."xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/volume | "12"xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://purl.uniprot.org/core/volume | "12"xsd:string |
| http://purl.uniprot.org/citations/10627136 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10627136 |
| http://purl.uniprot.org/citations/10627136 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10627136 |
| http://purl.uniprot.org/citations/10627136 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10627136 |
| http://purl.uniprot.org/citations/10627136 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10627136 |