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Glycogen-Storage Disease Type II (Acid Maltase Deficiency): Identification of a Novel Small Deletion (delCC482+483) in French Patients

โœ Scribed by Marc Nicolino; Jean Philippe Puech; Franck Letourneur; Michel Fardeau; Axel Kahn; Livia Poenaru


Book ID
115580361
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
91 KB
Volume
235
Category
Article
ISSN
0006-291X

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โœ Clare E. Beesley; Anne H. Child; Magdi H. Yacoub ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 165 KB ๐Ÿ‘ 2 views

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.