Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism

Nucleosides, Nucleotides and Nucleic Acids

Volumn 29, Issue 4-6, 2010, Pages 291-294

  Yamada, Y ^a   Yamada, K ^a   Nomura, N ^a   Yamano, A ^a   Kimura, R ^a   Tomida, S ^a   Naiki, M ^a   Wakamatsu, N ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

Author keywords

HPRT; hyperuricemia; Lesch Nyhan syndrome; mutations; PRPP synthetase

Indexed keywords

COMPLEMENTARY DNA; DNA FRAGMENT; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; RIBOSEPHOSPHATE PYROPHOSPHOKINASE;

ARTICLE; CASE REPORT; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; EXON; EXON SKIPPING; GOUT; HUMAN; HYPERURICEMIA; INBORN ERROR OF METABOLISM; JAPANESE; LESCH NYHAN SYNDROME; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROLOGIC DISEASE; PURINE METABOLISM; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME LINKED DISORDER;

DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERURICEMIA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; PURINES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RIBOSE-PHOSPHATE PYROPHOSPHOKINASE;

EID: 77953716473     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257771003738691     Document Type: Article

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