Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.
Yamada
Y
Y
Department of Genetics, Institute for Developmental Research, Aichi Prefectural Colony, Japan.
Goto
H
H
Murase
T
T
Ogasawara
N
N
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*
D000659:AMP Deaminase; D000225:Adenine