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A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease
BACKGROUND: Gaucher's disease (GD) is an autosomal recessive disorder caused by a deficiency of acid β-glucosidase (glucocerebrosidase [GBA]) that results in the accumulation of glucocerebroside within macrophages. Many mutations have been reported to be associated with this disorder. This stud...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852675/ https://www.ncbi.nlm.nih.gov/pubmed/27098793 http://dx.doi.org/10.4103/0366-6999.180523 |