Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease

Abstract Introduction Gaucher's disease (GD) is an autosomal-recessive lysosomal storage disorder that results from hereditary deficiency of the acid glucocerebrosidase enzyme, encoded by the GBA gene necessary for the degradation of glucosylceramide. Objective molecularly characterize the vari...

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Bibliographic Details
Main Author: Terranova,Daniela Arturo (author)
Other Authors: Giraldo,Lina Johanna Moreno (author), Idrobo,Henry (author), Satizabal,José María (author)
Format: article
Language:eng
Published: 2021
Subjects:
Computational Biology
Gaucher Disease
GBA gene
Lysosomal Storage Diseases
Variants (DeCS)
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100313
Country:Brazil
Oai:oai:scielo:S2326-45942021000100313

Internet

http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100313

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