Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha GlucosidaseFrank Martiniuk, Rochelle Hirschhorn, S Tzall et al.|DNA and Cell Biology|1991Cited by 76
Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.Frank Martiniuk, Rochelle Hirschhorn, S Tzall et al.|PubMed|1990Cited by 41
Identification of a Missense Mutation in an Adult-Onset Patient with Glycogenosis Type II Expressing Only One AlleleFrank Martiniuk, Rochelle Hirschhorn, Ning Zhong et al.|DNA and Cell Biology|1991Cited by 21