Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.
Sahota
A
A
Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202.
Chen
J
J
Asaki
K
K
Takeuchi
H
H
Stambrook
P J
PJ
Tischfield
J A
JA
D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002478:Cells, Cultured; D003241:Consanguinity; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length
D000228:Adenine Phosphoribosyltransferase