Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Jayesh ShethRiddhi BhavsarMehul MistriDhairya PancholiAshish BavdekarAshwin DalalPrajnya RanganathKatta M GirishaAnju ShuklaShubha PhadkeRatna PuriInusha PanigrahiAnupriya KaurMamta MuranjanManisha GoyalRadha RamadeviRaju ShahSheela NampoothiriSumita DandaChaitanya DatarSeema KapoorSeema BhatwadekarFrenny Sheth

Published in: BMC medical genetics (2019)

The study reports four novel and 29 known mutations identified in the GBA1 gene in one-hundred Gaucher patients. The given study establishes p.Leu483Pro as the most prevalent mutation in the Indian patients with type 1 Gaucher disease that provide new insight into the molecular basis of Gaucher Disease in India.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
replacement therapy
prognostic factors
peritoneal dialysis
genome wide
emergency department
patient reported outcomes
dna methylation
smoking cessation