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NOVEL LYSOSOMAL GLYCOAMINOACID STORAGE DISEASE WITH ANGIOKERATOMA CORPORIS DIFFUSUM

โœ Scribed by Kanzaki, Tamotsu; Mizuno, Nobuyuki; Yokota, Michiko; Matsumoto, Yukie; Hirabayashi, Yoshio


Book ID
122457581
Publisher
The Lancet
Year
1989
Tongue
English
Weight
639 KB
Volume
333
Category
Article
ISSN
0140-6736

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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.