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October 1, 1995Journal of Medical GeneticsOpen Access

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

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Cite This Study

Kroos et al. (1995) studied this question.

synapsesocial.com/papers/6ab0bf228409d5b26834c899 https://doi.org/10.1136/jmg.32.10.836-a

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Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

1Aberrant 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) mutationCase-Control Study · 1994 · 170 citations
2The 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 IIOriginal Research · 1994 · 64 citations
3Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)Original Research · 1989 · 2,518 citations
4Glycogenosis type II (acid maltase deficiency)Original Research · 1995 · 163 citations