Molecular characterization of a novel mutation in APRT heterozygotes.
Sahota
A
A
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202, USA.
Bye
S
S
Chen
J
J
Khattar
N H
NH
Turker
M S
MS
Moro
F
F
Simmonds
H A
HA
Emmerson
B T
BT
Gordon
R B
RB
Tischfield
J A
JA
D000228:Adenine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D003001:Cloning, Molecular; D004912:Erythrocytes / Q000201:enzymology; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006073:Gout / Q000201:enzymology / Q000235:genetics; D006801:Humans; D008297:Male; D009679:Nuclear Family; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D000228:Adenine Phosphoribosyltransferase