• Mutation; HGNC; 4065; GAA; Simple; p.Met519Val (c.1555A>G); ClinVar=VCV001067893; Zygosity=Heterozygous (PubMed=10189220).
  
• Mutation; HGNC; 4065; GAA; Simple; c.1326+1G>A (IVS8+1G>A); ClinVar=VCV000597944; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=10189220).
  

PubMed=2112341; PMCID=PMC1683757
Martiniuk F., Mehler M., Tzall S., Meredith G., Hirschhorn R.
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
Am. J. Hum. Genet. 47:73-78(1990)

PubMed=1652892; PMCID=PMC1683123
Zhong N., Martiniuk F., Tzall S., Hirschhorn R.
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
Am. J. Hum. Genet. 49:635-645(1991)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=10189220; DOI=10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU13>3.0.CO;2-2
Raben N., Lee E., Lee L., Hirschhorn R., Plotz P.H.
Novel mutations in African American patients with glycogen storage disease type II.
Hum. Mutat. 13:83-84(1999)