title: Molecular mechanisms of the second female Lesch-Nyhan patient.
authors.affiliation: Department of Genetics, Institute for Developmental Research, Aichi Prefectural Colony, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Goto
authors.forename: T
authors.initials: T
authors.lastname: Yukawa
authors.forename: H
authors.initials: H
authors.lastname: Akazawa
authors.forename: N
authors.initials: N
authors.lastname: Ogasawara
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000097:blood; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D015252:Deoxyribonucleases, Type II Site-Specific; D004912:Erythrocytes / Q000201:enzymology; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000235:genetics*; D007621:Karyotyping; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000235:genetics*; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000032:analysis; D012016:Reference Values; D015183:Restriction Mapping; D012727:Sex Characteristics
chemical_list: D012333:RNA, Messenger; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase; C034510:CTCGAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific