http://purl.uniprot.org/citations/15240907 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15240907 | http://www.w3.org/2000/01/rdf-schema#comment | "Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary hearing loss. Different clinical forms of non-syndromic X-linked deafness have been described, and most of these have been mapped. Here, we report a Chinese family affected by a congenital profound sensorineural hearing loss. All phenotypes of this family are clinically compatible with non-syndromic sensorineural deafness (DFN2). A maximum two-point Lod score of 2.32 was obtained at marker DXS6797 (theta = 0.00). Recombinants define a region of 4.3 cM flanked by markers DXS6799 and GATA172D05. This region overlaps the previously reported DFN2 region by 2.0 cM."xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf02715827"xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/author | "Cui B."xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/author | "Lu Y."xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/author | "Zhang H."xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/author | "Zhong W."xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/author | "Hu L."xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/author | "Kong X."xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/author | "Pei G."xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/name | "J Genet"xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/pages | "35-38"xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/title | "Refinement of the locus for non-syndromic sensorineural deafness (DFN2)."xsd:string |
http://purl.uniprot.org/citations/15240907 | http://purl.uniprot.org/core/volume | "83"xsd:string |
http://purl.uniprot.org/citations/15240907 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15240907 |
http://purl.uniprot.org/citations/15240907 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/15240907 |
http://purl.uniprot.org/uniprot/#_B7ZB02-mappedCitation-15240907 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15240907 |
http://purl.uniprot.org/uniprot/#_P60891-mappedCitation-15240907 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15240907 |
http://purl.uniprot.org/uniprot/#_Q15244-mappedCitation-15240907 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15240907 |
http://purl.uniprot.org/uniprot/#_Q53FW2-mappedCitation-15240907 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15240907 |
http://purl.uniprot.org/uniprot/P60891 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/15240907 |
http://purl.uniprot.org/uniprot/B7ZB02 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/15240907 |
http://purl.uniprot.org/uniprot/Q53FW2 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/15240907 |
http://purl.uniprot.org/uniprot/Q15244 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/15240907 |