A first evidence of an asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene in humans.
Fujimori
S
S
Second Department of Internal Medicine, Teikyo University School of Medicine.
Yamaoka
N
N
Sakuma
R
R
Hakoda
M
M
Yamanaka
H
H
Akaoka
I
I
Kamatani
N
N
D000595:Amino Acid Sequence; D001402:B-Lymphocytes / Q000201:enzymology; D001483:Base Sequence; D003062:Codon; D017931:DNA Primers; D004912:Erythrocytes / Q000201:enzymology; D005091:Exons; D006461:Hemolysis; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014960:X Chromosome
D003062:Codon; D017931:DNA Primers; D007041:Hypoxanthine Phosphoribosyltransferase