| pubmed-article:12112665 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12112665 | lifeskim:mentions | umls-concept:C1384666 | lld:lifeskim |
| pubmed-article:12112665 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:12112665 | lifeskim:mentions | umls-concept:C0240321 | lld:lifeskim |
| pubmed-article:12112665 | lifeskim:mentions | umls-concept:C0020792 | lld:lifeskim |
| pubmed-article:12112665 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:12112665 | lifeskim:mentions | umls-concept:C0271829 | lld:lifeskim |
| pubmed-article:12112665 | lifeskim:mentions | umls-concept:C1418445 | lld:lifeskim |
| pubmed-article:12112665 | lifeskim:mentions | umls-concept:C1419060 | lld:lifeskim |
| pubmed-article:12112665 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:12112665 | pubmed:dateCreated | 2002-7-11 | lld:pubmed |
| pubmed-article:12112665 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12112665 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12112665 | pubmed:abstractText | 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). | lld:pubmed |
| pubmed-article:12112665 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12112665 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12112665 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12112665 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:12112665 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12112665 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12112665 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:12112665 | pubmed:issn | 1098-1004 | lld:pubmed |
| pubmed-article:12112665 | pubmed:author | pubmed-author:EstivillXX | lld:pubmed |
| pubmed-article:12112665 | pubmed:author | pubmed-author:GaspariniPP | lld:pubmed |
| pubmed-article:12112665 | pubmed:author | pubmed-author:ZelanteLL | lld:pubmed |
| pubmed-article:12112665 | pubmed:author | pubmed-author:MelchiondaSS | lld:pubmed |
| pubmed-article:12112665 | pubmed:author | pubmed-author:de CidRR | lld:pubmed |
| pubmed-article:12112665 | pubmed:author | pubmed-author:GrierSS | lld:pubmed |
| pubmed-article:12112665 | pubmed:author | pubmed-author:ArbonésM LML | lld:pubmed |
| pubmed-article:12112665 | pubmed:author | pubmed-author:GoveaNN | lld:pubmed |
| pubmed-article:12112665 | pubmed:author | pubmed-author:López-BigasNN | lld:pubmed |
| pubmed-article:12112665 | pubmed:copyrightInfo | Copyright 2002 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:12112665 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:12112665 | pubmed:volume | 20 | lld:pubmed |
| pubmed-article:12112665 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12112665 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12112665 | pubmed:pagination | 77-8 | lld:pubmed |
| pubmed-article:12112665 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:12112665 | pubmed:year | 2002 | lld:pubmed |
| pubmed-article:12112665 | pubmed:articleTitle | Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. | lld:pubmed |
| pubmed-article:12112665 | pubmed:affiliation | Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Spain. | lld:pubmed |
| pubmed-article:12112665 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12112665 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:12112665 | pubmed:publicationType | Corrected and Republished Article | lld:pubmed |
| entrez-gene:5172 | entrezgene:pubmed | pubmed-article:12112665 | lld:entrezgene |
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