| http://purl.uniprot.org/citations/8490648 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8490648 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8490648 | http://www.w3.org/2000/01/rdf-schema#comment | "Waardenburg syndrome (WS) is a combination of deafness and pigmentary disturbances, normally inherited as an autosomal dominant trait. The pathology involves neural crest derivatives, but WS is heterogeneous clinically and genetically. Some type I WS families show linkage with markers on distal 2q and in three cases the disease has been attributed to mutations in the PAX3 gene. PAX3 encodes a paired domain, a highly conserved octapeptide and probably also a paired-type homeodomain. Here we describe a further three PAX3 mutations which cause WS; one alters the octapeptide motif plus the presumed homeodomain; a second alters all three elements and the third alters the paired box alone. The latter occurs in a family with probable type 2 WS, a clinical variant usually considered not to be allelic with type 1 WS."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0193-26"xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0193-26"xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Gruss P."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Gruss P."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Harris R."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Harris R."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Strachan T."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Strachan T."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Read A.P."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Read A.P."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Tassabehji M."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Tassabehji M."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Patton M."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Patton M."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Newton V.E."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/author | "Newton V.E."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/pages | "26-30"xsd:string |
| http://purl.uniprot.org/citations/8490648 | http://purl.uniprot.org/core/pages | "26-30"xsd:string |