Sequence of the cDNA and 5′-Flanking Region for Human Acid α-Glucosidase, Detection of an Intron in the 5′ Untranslated Leader Sequence, Definition of 18-bp Polymorphisms, and Differences with Previous cDNA and Amino Acid SequencesFrank Martiniuk, Rochelle Hirschhorn, S Tzall et al.|DNA and Cell Biology|1990Cited by 88
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.Frank Martiniuk, Rochelle Hirschhorn, S Tzall et al.|PubMed|1990Cited by 46