The autosomal recessive glycogen storage disease type I1 is associated with a deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the mutations in the lysosomal a-glucosidase alleles of an adult patient. A G-1927 to A transition was discovered in exon 14 causing the substitut
✦ LIBER ✦
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid α-glucosidase deficiency)
✍ Scribed by Walvoort, Hendrik C. ;Slee, Regina G. ;Sluis, Koos J. ;Koster, Johan F. ;Reuser, Arnold J. J.
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 631 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0148-7299
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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.