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Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene

✍ Scribed by Amarjit Chahal; Mushfiquddin Khan; Shashidhar G Pai; Ernest Barbosa; Inderjit Singh


Book ID
117109242
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
205 KB
Volume
429
Category
Article
ISSN
0014-5793

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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.