Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

  title={Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.},
  author={M. Kroos and M. van der Kraan and O. V. van Diggelen and W. Kleijer and A. Reuser and M. H. van den Boogaard and M. Ausems and H. K. Ploos van Amstel and L. Poenaru and M. Nicolino},
  journal={Journal of Medical Genetics},
  pages={836 - 837}
ease, including neuropsychological testing; (3) research to obtain insight into people's knowledge, beliefs, feelings, and behaviour related to genetic disease, genetic risk, and genetic testing. "Prediction" of how many people will use specific genetic tests and delineation of predictor variables is part of the latter role. We want to stress that the mere prediction of future uptake rates or other preventive behaviour is not the main purpose of our study. The study is aimed at a description of… Expand

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