HPRT gene mutations in a female Lesch-Nyhan patient.
Ogasawara
N
N
Department of Genetics, Institute for Developmental Research, Aichi, Japan.
Yamada
Y
Y
Goto
H
H
D000293:Adolescent; D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D008745:Methylation; D008969:Molecular Sequence Data; D014960:X Chromosome
D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase