Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the...
Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene
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Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Language
English
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Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Scope and Contents
Contents
Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene. In this study, a total of 19 patients with Wolfram syndrome and 36 relatives from 17 families were screened for mutations in the WFS1 gene. WFS1 mutations were identified on both alleles in 16 of 19 patients and on 1...
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Full title
Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene
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TN_cdi_proquest_miscellaneous_67343166
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67343166
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ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.9300
