Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations

Nucleosides, Nucleotides and Nucleic Acids

Volumn 30, Issue 12, 2011, Pages 1272-1275

  Yamada, Yasukazu ^a   Yamada, Kenichiro ^a   Nomura, Noriko ^a   Yamano, Arisa ^a   Kimura, Reiko ^a   Naiki, Misako ^a   Fukushi, Daisuke ^a   Wakamatsu, Nobuaki ^a   Taniguchi, Atsuo ^b   Yamaoka, Noriko ^c   Kaneko, Kiyoko ^c   Fujimori, Shin ^c  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c TEIKYO UNIVERSITY   (Japan)

Author keywords

CMTX5; HPRT; Lesch Nyhan syndrome; Mutations; PRPP synthetase

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MESSENGER RNA; PROTEIN HPRT1; PROTEIN PRPS1; RIBOSEPHOSPHATE PYROPHOSPHOKINASE; UNCLASSIFIED DRUG;

ARTICLE; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; DNA FRAGMENTATION; GENE ACTIVITY; GENE DELETION; GENE MUTATION; HUMAN; LESCH NYHAN SYNDROME; SEQUENCE ANALYSIS;

GENETIC DISEASES, X-LINKED; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MUTATION; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RIBOSE-PHOSPHATE PYROPHOSPHOKINASE;

EID: 84855883570     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770.2011.597369     Document Type: Article

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