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[Lesch-Nyhan Syndrome. Heterozygote Detection by Biochemical Selection of the Mutant Cells and Autoradiography]

Overview
Journal Humangenetik
Specialty Genetics
Date 1972 Jan 1
PMID 5049065
Citations 2
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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.

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Hypoxanthine-guanine phosphoribosyl transferase deficiency.

de Bruyn C Hum Genet. 1976; 31(2):127-50.

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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