Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.Frank Martiniuk, Rochelle Hirschhorn, Mark F. Mehler et al.|Proceedings of the National Academy of Sciences|1986Cited by 113
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, Mark F. Mehler et al.|DNA and Cell Biology|1990Cited by 88
Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha GlucosidaseFrank Martiniuk, Rochelle Hirschhorn, Michael J. Bodkin et al.|DNA and Cell Biology|1991Cited by 76
A genetic linkage map of chromosome 17Jonathan L. Haines, James F. Gusella, Laurie J. Ozelius et al.|Genomics|1990Cited by 56
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.Nanbert Zhong, Rochelle Hirschhorn, Frank Martiniuk et al.|PubMed|1991Cited by 51