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Human Genetics|April 1, 1996
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotypeH Tsunoda, T Ohshima, J Tohyama, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 1, 1992
A mechanism for the antiinflammatory effects of corticosteroids: the glucocorticoid receptor regulates leukocyte adhesion to endothelial cells and expression of endothelial-leukocyte adhesion molecule 1 and intercellular adhesion molecule 1B N Cronstein, S C Kimmel, R I Levin, et al.
The Journal of Pediatrics|August 10, 2000
Identification of two subtypes of infantile acid maltase deficiencyA E Slonim, L Bulone, S Ritz, et al.
The Journal of Clinical Investigation|June 1, 1983
Genetic heterogeneity in partial adenosine deaminase deficiencyR Hirschhorn, F Martiniuk, V Roegner-Maniscalco, et al.
DNA and Cell Biology|November 1, 1991
Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one alleleF Martiniuk, M Mehler, M Bodkin, et al.
American Journal of Respiratory Cell and Molecular Biology|December 1, 1994
Isolation of the gene for the beta subunit of RNA polymerase from rifampicin-resistant Mycobacterium tuberculosis and identification of new mutationsV Donnabella, F Martiniuk, D Kinney, et al.
Australian Veterinary Journal|August 1, 1995
Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattleP J Healy, P J Nicholls, F Martiniuk, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 1, 1986
Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patientsF Martiniuk, M Mehler, A Pellicer, et al.
Infection and Immunity|June 1, 1994
Mycobacterium tuberculosis alters expression of adhesion molecules on monocytic cellsG M López Ramírez, W N Rom, C Ciotoli, et al.
Annals of Human Genetics|January 1, 1984
Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridizationJ Honig, F Martiniuk, P D'Eustachio, et al.
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