Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486) causing severe Wolfram syndrome...
Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486) causing severe Wolfram syndrome and first report of male fertility
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England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Wolfram syndrome (WFS) is a neurodegenerative genetic condition characterized by juvenile-onset of diabetes mellitus and optic atrophy. We studied clinical features and the molecular basis of severe WFS (neurodegenerative complications) in two consanguineous families from Iran. A clinical and molecular genetic investigation was performed in the aff...
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Full title
Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486) causing severe Wolfram syndrome and first report of male fertility
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3573194
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3573194
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2012.154
