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A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
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 acc...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057115/ https://ncbi.nlm.nih.gov/pubmed/31943857 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1090 |
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