Sutcliffe D, Dinasarapu A, Visser J, den Hoed J, Seifar F, Joshi P
Sci Rep. 2021; 11(1):8523.
PMID: 33875724
PMC: 8055678.
DOI: 10.1038/s41598-021-87955-9.
Rijksen G, Staal G, van der Vlist M, Beemer F, Troost J, GUTENSOHN W
Hum Genet. 1981; 57(1):39-47.
PMID: 7262868
DOI: 10.1007/BF00271165.
Strauss M, Lubbe L, Geissler E
Hum Genet. 1981; 57(2):185-8.
PMID: 7228031
DOI: 10.1007/BF00282019.
Osborne W, Scott C
Biochem J. 1983; 214(3):711-8.
PMID: 6312962
PMC: 1152307.
DOI: 10.1042/bj2140711.
Becker M, Raivio K, BAKAY B, ADAMS W, Nyhan W
J Clin Invest. 1980; 65(1):109-20.
PMID: 6243137
PMC: 371345.
DOI: 10.1172/JCI109640.
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.
SNYDER F, Chudley A, Macleod P, Carter R, Fung E, Lowe J
Hum Genet. 1984; 67(1):18-22.
PMID: 6204922
DOI: 10.1007/BF00270552.
[Lesch-Nyhan syndrome. Heterozygote detection by biochemical selection of the mutant cells and autoradiography].
Hagemeijer A, DODINVAL P, Andrien J
Humangenetik. 1972; 15(2):126-35.
PMID: 5049065
DOI: 10.1007/BF00295739.
Heterogeneity in the biochemical characteristics of red blood cell hypoxanthine-guanine phosphoribosyl transferase from two unrelated patients with the Lesch-Nyhan syndrome.
Richardson B, Ryckman D, Komarnicki L, Hamerton J
Biochem Genet. 1973; 9(2):197-202.
PMID: 4726089
DOI: 10.1007/BF00487450.
Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome.
Arnold W, Kelley W
J Clin Invest. 1973; 52(4):970-3.
PMID: 4693659
PMC: 302346.
DOI: 10.1172/JCI107263.
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.
Arnold W, Meade J, Kelley W
J Clin Invest. 1972; 51(7):1805-12.
PMID: 4624352
PMC: 292328.
DOI: 10.1172/JCI106982.
Molecular variation in relation to purine metabolism.
Watts R
J Clin Pathol Suppl (R Coll Pathol). 1974; 8:48-63.
PMID: 4620886
PMC: 1347204.
Genetic heterogeneity in inherited disease.
Harris H
J Clin Pathol Suppl (R Coll Pathol). 1974; 8:32-7.
PMID: 4536365
PMC: 1347202.
Expression of purine overproduction in a series of 8-azaguanine-resistant diploid human lymphoblast lines.
Lever J, Nuki G, Seegmiller J
Proc Natl Acad Sci U S A. 1974; 71(7):2679-83.
PMID: 4527800
PMC: 388531.
DOI: 10.1073/pnas.71.7.2679.
Chemical mutagenesis at the phosphoribosyltransferase locus in cultured human lymphoblasts.
Sato K, Slesinski R, LITTLEFIELD J
Proc Natl Acad Sci U S A. 1972; 69(5):1244-8.
PMID: 4504337
PMC: 426673.
DOI: 10.1073/pnas.69.5.1244.
Adenosine 3': 5'-cyclic monophosphate in young and senescent human fibroblasts during growth and stationary phase in vitro. Effects of prostaglandine E1 and of adrenaline.
Haslam R, Goldstein S
Biochem J. 1974; 144(2):253-63.
PMID: 4376959
PMC: 1168492.
DOI: 10.1042/bj1440253.
Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.
BAKAY B, Nyhan W
Biochem Genet. 1972; 6(2):139-46.
PMID: 4354248
DOI: 10.1007/BF00486398.
Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.
Benke P, Herrick N, Hebert A
J Clin Invest. 1973; 52(9):2234-40.
PMID: 4353774
PMC: 333025.
DOI: 10.1172/JCI107409.
8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase.
Gillin F, Roufa D, Beaudet A, Caskey C
Genetics. 1972; 72(2):239-52.
PMID: 4345996
PMC: 1212824.
DOI: 10.1093/genetics/72.2.239.
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.
Davidson B, Tarle S, Palella T, Kelley W
J Clin Invest. 1989; 84(1):342-6.
PMID: 2738157
PMC: 303988.
DOI: 10.1172/JCI114160.
Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.
SNYDER F, Joyce J, Joshi R, Rylance H, Wallace R, Nuki G
J Inherit Metab Dis. 1989; 12(4):390-402.
PMID: 2516172
DOI: 10.1007/BF01802034.
