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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...

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Detalles Bibliográficos
Autores principales:	Liu, Lin-Yu, Liu, Fei, Du, Si-Chen, Jiang, Sha-Yi, Wang, Hui-Jun, Zhang, Jin, Wang, Wei, Ma, Duan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2016
Materias:	Original Article
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

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