A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
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United States: John Wiley & Sons, Inc
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English
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Publisher
United States: John Wiley & Sons, Inc
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Background
Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing mutations within or close to conserved consensus donor or acceptor splice sites have also been described. The...
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Full title
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
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TN_cdi_doaj_primary_oai_doaj_org_article_ed28cb0f8c164a91bcb9899c190800d3
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ed28cb0f8c164a91bcb9899c190800d3
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1090
