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Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease

✍ Scribed by Jer-Yuarn Wu; Mei-Chen Wu; Chen-Chun Lee; Fuu-Jen Tsai


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
16 KB
Volume
17
Category
Article
ISSN
1059-7794

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✦ Synopsis


Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid betaglucosidase gene of a Taiwan Chinese patient with type II Gaucher disease


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The autosomal recessive disorder Glycogen Storage Disease Type II (GSDII) is caused by a deficiency in the lysosomal enzyme acid -glucosidase. We have optimised a procedure to use fluorescent DNA sequencing technology to screen for mutations within the -glucosidase gene from UK patients with GSDII.