A splice mutation at the adenine phosphoribosyltransferase locus detected in a German family.
Medizinische Poliklinik, München.
B S
BS
Gathof
A
A
Sahota
U
U
Gresser
J
J
Chen
P S
PS
Stambrook
J A
JA
Tischfield
N
N
Zöllner
D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D014430:Twins, Monozygotic
D004247:DNA; D000228:Adenine Phosphoribosyltransferase