Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation...
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations
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Publisher
London: Nature Publishing Group UK
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English
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Publisher
London: Nature Publishing Group UK
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Contents
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency in the glycogen debranching enzyme (gene symbol:
AGL
) with two enzyme activities: transferase and glucosidase. A missense mutation causing isolated glucosidase deficiency has never been reported. In this study, we examined 23 patients of Turki...
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Full title
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations
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TN_cdi_proquest_miscellaneous_734153364
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_734153364
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2009.100
