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Somatic Cell and Molecular Genetics|January 1, 1986
Detection, frequency, and stability of cotransformants expressing nonselectable human enzymesF Martiniuk, A Pellicer, M Mehler, et al.American Journal of Human Genetics|September 1, 1991
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 alleleN Zhong, F Martiniuk, S Tzall, et al.American Journal of Human Genetics|September 1, 1990
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 cellsF Martiniuk, M Bodkin, S Tzall, et al.Journal of Immunology (Baltimore, Md. : 1950)|January 1, 1979
The distribution of adenosine deaminase among lymphocyte populations in the ratR Barton, F Martiniuk, R Hirschhorn, et al.DNA and Cell Biology|May 1, 1991
Isolation and partial characterization of the structural gene for human acid alpha glucosidaseF Martiniuk, M Bodkin, S Tzall, et al.Human Genetics|January 1, 1985
Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridizationF Martiniuk, A Ellenbogen, K Hirschhorn, et al.Blood|November 1, 1988
Differential expression of adenosine deaminase isozymes in acute leukemiaH Ratech, F Martiniuk, W Z Borer, et al.American Journal of Human Genetics|July 1, 1990
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNAF Martiniuk, M Mehler, S Tzall, et al.DNA and Cell Biology|March 1, 1990
Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequencesF Martiniuk, M Mehler, S Tzall, et al.Human Molecular Genetics|July 1, 1996
A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II)N Raben, R C Nichols, F Martiniuk, et al.Pageof 4