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Fig. 1 | BMC Medical Genetics

Fig. 1

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

Fig. 1

Illustrative representation of the distributions of the variants identified in Indian Gaucher patients investigated in this study. a Majority of the patients were affected with Gaucher disease type I (77 patients), followed by Gaucher disease type II (12 patients) and Gaucher disease type III (11 patients). b The most common mutation c.1448T>C was observed in 62 patients (including homozygotes and compound heterozygotes). The second most common mutations identified were c.1603C>T and RecNcil. c Variations on exon 4–12 were observed on GBA1 gene. Also a mutation g.3548A>G was observed in the intron 1. The mutations were more clustered on exon 4 and exon 7 to exon 11

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BMC Medical Genetics

ISSN: 1471-2350

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