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

@article{Kroos1995GlycogenSD,
  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},
  year={1995},
  volume={32},
  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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References

SHOWING 1-6 OF 6 REFERENCES
Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.
TLDR
An abnormal 2.3 kb SacI fragment of the human lysosomal alpha-glucosidase gene (GAA) was identified in patients with glycogen storage disease type II and is so far the most common mutation in this disease. Expand
Glycogenosis type II (acid maltase deficiency)
TLDR
This minireview on GSD II is an update of current literature, but also includes original data from the collaborating authors on mutations occurring in the lysosomal α‐glucosidase gene and on prenatal diagnosis by chorionic villus sampling. Expand
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
Two newly identified splice site mutations (IVS1 -13T-->G and IVS10 +1GT-->CT) were found in a patient with adult onset of the autosomal recessive disorder glycogen storage disease type II (GSDII).Expand
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
TLDR
The presumably rare event of de novo mutation in an autosomal recessive disorder, glycogen storage disease type II (GSDII), was identified and paternity was confirmed by presence of two downstream, uncommon amino acid substitutions in both proband and father and by comparison of nine short tandem repeats. Expand
The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II
TLDR
The patient with adult GSD II has, in accordance with the allelic constitution, a 2-fold higher residual activity than the patient with juvenile GSDII, and the delta T525 deletion was detected in two other unrelated patients, and also the C1634T transition was encountered in two more Caucasian patients with G SDII. Expand
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).
TLDR
A system, ARMS (Amplification Refractory Mutation System), that allows genotyping solely by inspection of reaction mixtures after agarose gel electrophoresis, which is simple, reliable and non-isotopic. Expand