title: Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency.
authors.affiliation: Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Goto
authors.forename: N
authors.initials: N
authors.lastname: Ogasawara
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency / Q000235:genetics*; D000483:Alleles; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D000659:AMP Deaminase