| http://purl.uniprot.org/citations/7550340 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7550340 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7550340 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA which spans chromosomal breakpoints previously identified in two multiple exostoses patients. Furthermore, the gene harbours frameshift mutations in affected members of two EXT1 families. The cDNA has a coding region of 2,238 bp with no apparent homology to other known gene sequences and thus its function remains elusive. However, recent studies in sporadic and exostosis-derived chondrosarcomas suggest that the 8q24.1-encoded EXT1 gene may have tumour suppressor function."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1095-137"xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1095-137"xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Lee B."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Lee B."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Ahn J."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Ahn J."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Lindow S."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Lindow S."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Horsthemke B."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Horsthemke B."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Wagner M.J."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Wagner M.J."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Wells D.E."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Wells D.E."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Horton W.A."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Horton W.A."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Luedecke H.-J."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/author | "Luedecke H.-J."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/7550340 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |