| http://purl.uniprot.org/citations/9043863 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9043863 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9043863 | http://www.w3.org/2000/01/rdf-schema#comment | "We have previously reported the isolation of a gene from Xq13, coding for a putative regulator of transcription (XNP). It is a member of the helicase family, and has now been shown to be the gene involved in the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. ATR-X mutations were only found in the 3'-part of the coding sequence, which includes the helicase domains. However, no ATR-X mutation has yet been found in one of the seven conserved helicase domains. In this paper, we report a mutation in XNP, segregating in a family presenting an "ATR-X' phenotype without alpha-thalassemia, that causes a proline to serine transition in the helicase II domain."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.org/dc/terms/identifier | "doi:10.1159/000472225"xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.org/dc/terms/identifier | "doi:10.1159/000472225"xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/author | "Fontes M."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/author | "Fontes M."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/author | "Villard L."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/author | "Villard L."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/author | "Lacombe D."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/author | "Lacombe D."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/pages | "316-320"xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/pages | "316-320"xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/title | "A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/title | "A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia."xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/volume | "4"xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://purl.uniprot.org/core/volume | "4"xsd:string |
| http://purl.uniprot.org/citations/9043863 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9043863 |
| http://purl.uniprot.org/citations/9043863 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9043863 |
| http://purl.uniprot.org/citations/9043863 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/9043863 |
| http://purl.uniprot.org/citations/9043863 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/9043863 |