Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population

Nucleosides, Nucleotides and Nucleic Acids

Volumn 30, Issue 12, 2011, Pages 1248-1255

  Yamada, Y ^a   Wakamatsu, N ^a   Taniguchi, A ^b   Kaneko, K ^c   Fujimori, S ^c  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c TEIKYO UNIVERSITY   (Japan)

Author keywords

HPRT; Hyperuricemia; Kelley Seegmiller syndrome; Lesch Nyhan syndrome; Mutations

Indexed keywords

GENOMIC DNA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MESSENGER RNA;

AMINO ACID SUBSTITUTION; AMNIOTIC FLUID CELL; ARTICLE; ASIAN; CHORION VILLUS SAMPLING; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE TRANSLOCATION; GENETIC HETEROGENEITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPIC VARIATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PROMOTER REGION; RARE DISEASE; SPLICING DEFECT;

ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE DELETION; GENETICS, POPULATION; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MUTAGENESIS, INSERTIONAL; MUTATION; PHENOTYPE; POINT MUTATION;

EID: 84855878866     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770.2011.603714     Document Type: Article

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