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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2002-7-11
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pubmed:databankReference |
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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).
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1098-1004
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2002 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
77-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12112665-Alleles,
pubmed-meshheading:12112665-Alternative Splicing,
pubmed-meshheading:12112665-Carrier Proteins,
pubmed-meshheading:12112665-DNA,
pubmed-meshheading:12112665-DNA Mutational Analysis,
pubmed-meshheading:12112665-Family Health,
pubmed-meshheading:12112665-Genotype,
pubmed-meshheading:12112665-Goiter,
pubmed-meshheading:12112665-Hearing Loss, Sensorineural,
pubmed-meshheading:12112665-Humans,
pubmed-meshheading:12112665-Italy,
pubmed-meshheading:12112665-Mediterranean Region,
pubmed-meshheading:12112665-Membrane Transport Proteins,
pubmed-meshheading:12112665-Mutation,
pubmed-meshheading:12112665-Mutation, Missense,
pubmed-meshheading:12112665-Phenotype,
pubmed-meshheading:12112665-Sequence Deletion,
pubmed-meshheading:12112665-Spain,
pubmed-meshheading:12112665-Syndrome
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pubmed:year |
2002
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pubmed:articleTitle |
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
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pubmed:affiliation |
Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Corrected and Republished Article
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