Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA specie...
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Language
English
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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The correct identification of disease‐causing mutations from the background of harmless nucleotide polymorphisms/substitutions has become a critical issue in the investigation of human genetic diseases. Here, we describe two novel disease‐causing splicing mutations in the glucocerebrosidase gene, g.4252C>G and g.4426A>G, that have been found in two...
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Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays
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TN_cdi_proquest_miscellaneous_70200016
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70200016
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ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.9391
