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A therapeutic trial of amniotic epithelial cell implantation in patients with lysosomal storage diseases

โœ Scribed by Yeager, Andrew M. ;Singer, Harvey S. ;Buck, James R. ;Matalon, Reuben ;Brennan, Susan ;O'Toole, Susan O'Donnell ;Moser, Hugo W. ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
596 KB
Volume
22
Category
Article
ISSN
0148-7299

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The identification of five novel mutatio
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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.