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

Autor: 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.
Zdroj: In Molecular Genetics and Metabolism 2007 92(4):325-335
Databáze: ScienceDirect