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. 1995 Oct;32(10):836-7.

doi: 10.1136/jmg.32.10.836-a.

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

M A Kroos, M Van der Kraan, O P Van Diggelen, W J Kleijer, A J Reuser, M J Van den Boogaard, M G Ausems, H K Ploos van Amstel, L Poenaru, M Nicolino, et al.

PMID: 8558570
PMCID: PMC1051720
DOI: 10.1136/jmg.32.10.836-a

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

M A Kroos et al. J Med Genet. 1995 Oct.

. 1995 Oct;32(10):836-7.

doi: 10.1136/jmg.32.10.836-a.

Authors

M A Kroos, M Van der Kraan, O P Van Diggelen, W J Kleijer, A J Reuser, M J Van den Boogaard, M G Ausems, H K Ploos van Amstel, L Poenaru, M Nicolino, et al.

PMID: 8558570
PMCID: PMC1051720
DOI: 10.1136/jmg.32.10.836-a

No abstract available

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Comment in

Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations.
Hirschhorn R, Huie ML. Hirschhorn R, et al. J Med Genet. 1999 Jan;36(1):85-6. J Med Genet. 1999. PMID: 9950376 Free PMC article. No abstract available.

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References

1. Nucleic Acids Res. 1989 Apr 11;17(7):2503-16 - PubMed
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