A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
Abstract 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 dono...
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| Hauptverfasser: | , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wiley
2020-03-01
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| Schriftenreihe: | Molecular Genetics & Genomic Medicine |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1002/mgg3.1090 |
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