| http://purl.uniprot.org/citations/12112665 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12112665 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12112665 | http://www.w3.org/2000/01/rdf-schema#comment | "Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodide transport protein. Mutations in this gene are also a cause of non-syndromic autosomal recessive hearing impairment (DFNB4). We have analyzed the PDS/SLC26A4 gene in Spanish and Italian families and we have detected five novel mutations (X781W, T132I, IVS2-2A>G, Y556H and 406del5)."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.9043"xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.9043"xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Estivill X."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Estivill X."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Lopez-Bigas N."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Lopez-Bigas N."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Gasparini P."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Gasparini P."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Melchionda S."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Melchionda S."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Zelante L."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Zelante L."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Arbones M.L."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Arbones M.L."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "de Cid R."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "de Cid R."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Grifa A."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Grifa A."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Govea N."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/author | "Govea N."xsd:string |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/12112665 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |