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.

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

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

Affiliation

McCready ME; Children's Hospital of Eastern Ontario, Canada K1H 8L1.

Mol Genet Metab ; 92(4): 325-35, 2007 Dec.

Article in En | MEDLINE | ID: mdl-17723315

Subject(s)

Genetic Predisposition to Disease/genetics; Glycogen Storage Disease Type II/genetics; alpha-Glucosidases/genetics; Alleles; DNA Mutational Analysis; Glycogen Storage Disease Type II/diagnosis; Glycogen Storage Disease Type II/enzymology; Humans; Mutation; alpha-Glucosidases/deficiency

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Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Genetic Predisposition to Disease / Alpha-Glucosidases Type of study: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2007 Document type: Article

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