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HPRT1
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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
HPRT1
gene.
Duan J, Nilsson L, Lambert B. Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus. Hum Mutat. 2004 Jun;23(6):599-611.
PubMed citation
Entrez
Gene
Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000 Oct;463(3):309-26. Review.
PubMed citation
Nyhan WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000 Jun;108 Suppl 3:409-11. Review.
PubMed citation
Nyhan WL. The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. J Inherit Metab Dis. 1997 Jun;20(2):171-8. Review.
PubMed citation
Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buņo AS, O'Neill P. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore). 2001 Mar;80(2):102-12.
PubMed citation
Sculley DG, Dawson PA, Emmerson BT, Gordon RB. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet. 1992 Nov;90(3):195-207. Review.
PubMed citation
Reviewed: December 2007
Published: June 17, 2013
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