doi: 10.1002/humu.1238.
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment
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- PMID: 11748854
- DOI: 10.1002/humu.1238
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Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment
Hum Mutat.
2001 Dec.
Corrected and republished in
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Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.Hum Mutat. 2002 Jul;20(1):77-8. doi: 10.1002/humu.9043. Hum Mutat. 2002. PMID: 12112665
Abstract
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 new mutations (X871M, T132I, IVS1-2A>G, Y556H and 406del5).
Copyright 2001 Wiley-Liss, Inc.
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