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Volumn 26, Issue 3, 2007, Pages 255-258
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Hypoxanthine-guanine phosphoribosyltransferase deficiency: Biochemical and molecular findings in six Argentine patients
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Author keywords
HPRT; HPRT mutation; Hypoxanthine guanine phosphoribosyltransferase deficiency; Lesch Nyhan disease; Lesch Nyhan variant
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Indexed keywords
HYPOXANTHINE;
HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;
URIC ACID;
XANTHINE;
ARTICLE;
BIOCHEMISTRY;
CLINICAL ARTICLE;
ENZYME ACTIVITY;
GENE MUTATION;
GENETIC ASSOCIATION;
HUMAN;
LESCH NYHAN SYNDROME;
URIC ACID URINE LEVEL;
URINARY EXCRETION;
ARGENTINA;
CODON;
DNA MUTATIONAL ANALYSIS;
EXONS;
FAMILY HEALTH;
GERM-LINE MUTATION;
HUMANS;
HYPERURICEMIA;
HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;
LESCH-NYHAN SYNDROME;
METABOLISM, INBORN ERRORS;
MUTATION;
NERVOUS SYSTEM DISEASES;
PHENOTYPE;
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EID: 34147188524
PISSN: 15257770
EISSN: 15322335
Source Type: Journal
DOI: 10.1080/15257770701257269 Document Type: Article |
Times cited : (6)
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References (7)
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