S Tzall

Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.

Frank Martiniuk, Mark F. Mehler, Àngel Pellicer et al. · Proceedings of the National Academy of Sciences · 1986 · 110 citations · Full text

Genetics, Pathology, Molecular Biology +24

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 Sequences

Frank Martiniuk, Mark F. Mehler, S Tzall et al. · DNA and Cell Biology · 1990 · 88 citations

Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase

Frank Martiniuk, Michael J. Bodkin, S Tzall et al. · DNA and Cell Biology · 1991 · 76 citations

A genetic linkage map of chromosome 17

Jonathan L. Haines, Laurie J. Ozelius, Heather McFarlane et al. · Genomics · 1990 · 56 citations

Chromatin, Genetic Linkage Map, Cytogenetics +8

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, Frank Martiniuk, S Tzall et al. · PubMed · 1991 · 51 citations