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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.
Cellular Immunology|December 1, 1993
Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro)R Hirschhorn, D R Yang, R A Insel, et al.
The Journal of Experimental Medicine|October 1, 1983
Adenosine: a physiological modulator of superoxide anion generation by human neutrophilsB N Cronstein, S B Kramer, G Weissmann, et al.
Annals of Human Genetics|September 1, 1996
Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4)M L Huie, M Menaker, P J McAlpine, et al.
Blood|July 1, 1983
Adenosine and adenosine analogues are more toxic to chronic lymphocytic leukemia than to normal lymphocytesS Bajaj, J Insel, F Quagliata, et al.
The Journal of Clinical Investigation|December 1, 1981
Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patientsR Hirschhorn, V Roegner-Maniscalco, L Kuritsky, et al.
Clinical Immunology and Immunopathology|March 1, 1984
Adenosine deaminase is not required for the generation of superoxide anionB N Cronstein, S B Kramer, G Weissmann, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|September 5, 2008
Hospital staffing and health care-associated infections: a systematic review of the literaturePatricia W Stone, Monika Pogorzelska, Laureen Kunches, 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.
Human Genetics|March 1, 1996
Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridizationW L Kuo, R Hirschhorn, M L Huie, et al.
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