title: Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.
authors.affiliation: Department of Genetics, Institute for Developmental Research, Aichi Prefectural Colony, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Goto
authors.forename: T
authors.initials: T
authors.lastname: Murase
authors.forename: N
authors.initials: N
authors.lastname: Ogasawara
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency* / Q000235:genetics*; D000225:Adenine; D001483:Base Sequence; D004912:Erythrocytes / Q000201:enzymology*; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*
chemical_list: D000659:AMP Deaminase; D000225:Adenine