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Table 3 Carrier frequency analysis of Gaucher disease common mutation c.1448T>C (Leu444Pro)

From: 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

Disease

Gaucher

Gene

GBA

Mutation

c.1448T>C

Samples tested

1200

Heterozygote detected in this study

T/C: 2

Carrier frequency

1:600

allele frequency

(T>C) 1:1200

Wild-type allele frequency

T: 0.97113

Mutant allele frequency

C: 0.02887

Transcript identification

ENST00000327247.5

Mutation type

Missense

Mutation effect

Glucocerebrosidase enzyme deficiency

Promising therapeutic approaches

Enzyme Replacement Therapy (ERT)