Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

BACKGROUND: Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells’ lysosomes. A beta-Glucosidase (GBA) gene defect results in glucocerebrosidase enzyme deficiency. Though the disease is mainly diagnosed...

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Detalles Bibliográficos
Autores principales: Sheth, Jayesh, Pancholi, Dhairya, Mistri, Mehul, Nath, Payal, Ankleshwaria, Chitra, Bhavsar, Riddhi, Puri, Ratna, Phadke, Shubha, Sheth, Frenny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167838/
https://www.ncbi.nlm.nih.gov/pubmed/30285649
http://dx.doi.org/10.1186/s12881-018-0687-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167838/
https://www.ncbi.nlm.nih.gov/pubmed/30285649
http://dx.doi.org/10.1186/s12881-018-0687-5

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