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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| Outros Autores: | , , |
| Formato: | article |
| Idioma: | eng |
| Publicado em: |
2021
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| Texto completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100313 |
| País: | Brasil |
| Oai: | oai:scielo:S2326-45942021000100313 |