Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency.
Ishidate
T
T
Department of Pediatrics, Kitasato University School of Medicine, Kanagawa.
Igarashi
S
S
Kamatani
N
N
D000225:Adenine / Q000031:analogs & derivatives / Q000652:urine; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D002648:Child; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D014545:Urinary Calculi / Q000235:genetics / Q000652:urine
C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine