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

PubMed=2112341; PMCID=PMC1683757
Frank Martiniuk, Mark Mehler, Stephanie Tzall, Gary Meredith, Rochelle Hirschhorn;
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
Nan Zhong, Frank Martiniuk, Stephanie Tzall, Rochelle Hirschhorn;
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
Richard A. Mulivor, Sharon F. Suchy;
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
Nina Raben, Eunice Lee, Laura Lee, Rochelle Hirschhorn, Paul H. Plotz;
Novel mutations in African American patients with glycogen storage disease type II.
Hum. Mutat. 13:83-84(1999)