Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome

Nucleosides, Nucleotides and Nucleic Acids

Volumn 30, Issue 12, 2011, Pages 1266-1271

  Taniguchi, A ^a   Yamada, Y ^b   Hakoda, M ^c   Sekita, C ^a   Kawamoto, M ^a   Kaneko, H ^a   Yamanaka, H ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^c YASUDA WOMEN'S UNIVERSITY   (Japan)

Author keywords

Deletion; Hypoxanthine phosphoribosyltransferase gene; Interspersed repetitive DNA; Lesch Nyhan syndrome; Nonhomologous recombination

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; PROTEIN HPRT1; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; EXON; GENE DELETION; HUMAN; LESCH NYHAN SYNDROME; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION;

ADOLESCENT; BASE SEQUENCE; CHROMOSOME BREAKPOINTS; GENE DELETION; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MOLECULAR SEQUENCE DATA;

EID: 84855873992     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770.2011.608396     Document Type: Article

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