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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Udgivet i:BMC Med Genet
Main Authors: Sheth, Jayesh, Pancholi, Dhairya, Mistri, Mehul, Nath, Payal, Ankleshwaria, Chitra, Bhavsar, Riddhi, Puri, Ratna, Phadke, Shubha, Sheth, Frenny
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2018
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6167838/
https://ncbi.nlm.nih.gov/pubmed/30285649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0687-5
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