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.

Jayesh ShethDhairya PancholiMehul MistriPayal NathChitra AnkleshwariaRiddhi BhavsarRatna PuriShubha PhadkeFrenny Sheth

Published in: BMC medical genetics (2018)

The study reports novel and known variants identified in the GBA gene in seven adult patients. The given study is the first report on the carrier frequency of the Leu444Pro mutant allele in an Indian population which will help understanding the burden and susceptibility of Gaucher disease to affect next generation in India.

Keyphrases

replacement therapy
copy number
emergency department
anti inflammatory
gene expression
smoking cessation
electronic health record