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Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

โœ Scribed by M.E. McCready; N.L. Carson; P. Chakraborty; J.T.R. Clarke; J.W. Callahan; M.A. Skomorowski; A.K.J. Chan; F. Bamforth; R. Casey; C.A. Rupar; M.T. Geraghty


Book ID
116988047
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
687 KB
Volume
92
Category
Article
ISSN
1096-7192

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Mutation profile of the GAA gene in 40 I
โœ A.L.E. Montalvo; B. Bembi; M. Donnarumma; M. Filocamo; G. Parenti; M. Rossi; L. ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 255 KB ๐Ÿ‘ 1 views

Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. We report here the complete molecular analysis of the GAA gene performed on 40 Itali