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PMID:9824441

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Citation

Puig, JG, Mateos, FA, Torres, RJ and Buño, AS (1998) Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency. Eur. J. Clin. Invest. 28:950-7

Abstract

Female carriers of the X-linked recessive disorder hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency show somatic cell mosaicism, and this may cause an increased synthesis of purines. We have examined whether urinary oxypurines could be useful for carrier diagnosis.

Links

PubMed

Keywords

Adolescent; Adult; Aged; Case-Control Studies; Female; Heterozygote; Humans; Hypoxanthine/urine; Hypoxanthine Phosphoribosyltransferase/deficiency; Hypoxanthine Phosphoribosyltransferase/genetics; Lesch-Nyhan Syndrome/enzymology; Lesch-Nyhan Syndrome/genetics; Lesch-Nyhan Syndrome/metabolism; Male; Middle Aged; Purines/metabolism; Spain; Xanthine/urine

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:HPRT

involved_in

GO:0046100: hypoxanthine metabolic process

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HPRT

involved_in

GO:0006166: purine ribonucleoside salvage

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HPRT

involved_in

GO:0006164: purine nucleotide biosynthetic process

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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