title: Cardiac muscle AMP-deaminase from a 10-year-old male heterozygous for the AMPD1 C34T mutation.
abstract: A C34T mutation in the AMPD1 gene is proposed to cause local or systemic augmentations in blood adenosine level and improvement of prognoses in heart diseases like congestive heart failure or heart ischemic disease. This study examines some physico-chemical properties of AMP-deaminase isolated from cardiac muscle of a 10-year-old boy heterozygote for this mutation.
authors.affiliation: Department of Clinical Biochemistry and Physiology, Medical University of Gdansk, Gdansk, Poland.
authors.forename: I
authors.initials: I
authors.lastname: Rybakowska
authors.forename: S
authors.initials: S
authors.lastname: Bakuła
authors.forename: J
authors.initials: J
authors.lastname: Klimek
authors.forename: R
authors.initials: R
authors.lastname: Milczarek
authors.forename: R T
authors.initials: RT
authors.lastname: Smolenski
authors.forename: K
authors.initials: K
authors.lastname: Kaletha
mesh_terms: D000659:AMP Deaminase / Q000235:genetics* / Q000378:metabolism; D002648:Child; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009206:Myocardium / Q000201:enzymology*
chemical_list: D000659:AMP Deaminase