[Lesch-Nyhan Syndrome. Heterozygote Detection by Biochemical Selection of the Mutant Cells and Autoradiography]
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Citing Articles
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
Francke U, Felsenstein J, Gartler S, MIGEON B, DANCIS J, Seegmiller J Am J Hum Genet. 1976; 28(2):123-37.
PMID: 1266847 PMC: 1684918.
Hypoxanthine-guanine phosphoribosyl transferase deficiency.
de Bruyn C Hum Genet. 1976; 31(2):127-50.
PMID: 765262 DOI: 10.1007/BF00296142.
References
1.
SHAPIRO S, Sheppard Jr G, Dreifuss F, NEWCOMBE D
. X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia. Proc Soc Exp Biol Med. 1966; 122(2):609-11.
DOI: 10.3181/00379727-122-31204.
View
2.
Boyle J, Raivio K, Astrin K, Schulman J, Graf M, Seegmiller J
. Lesch-Nyhan syndrome: preventive control by prenatal diagnosis. Science. 1970; 169(3946):688-9.
DOI: 10.1126/science.169.3946.688.
View
3.
MIGEON B
. Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation. Am J Hum Genet. 1971; 23(2):199-210.
PMC: 1706686.
View
4.
DANCIS J, Jansen V, BERMAN P, BALIS M
. Inosinate pyrophosphorylase activity in immature blood cells in X-linked congenital hyperuricosuria. Biochem Genet. 1969; 3(4):311-6.
DOI: 10.1007/BF00485715.
View
5.
HENDERSON J, Kelley W, Rosenbloom F, Seegmiller J
. Inheritance of purine phosphoribosyltransferases in man. Am J Hum Genet. 1969; 21(1):61-70.
PMC: 1706393.
View