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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Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: Malekkou, Anna, Sevastou, Ioanna, Mavrikiou, Gavriella, Georgiou, Theodoros, Vilageliu, Lluisa, Moraitou, Marina, Michelakakis, Helen, Prokopiou, Chrystalla, Drousiotou, Anthi
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Original Articles
Online dostop: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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