The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism

Author:

Nyhan W. L.1

Affiliation:

1. ; Division of Biochemical Genetics, Department of Pediatrics; University of California, San Diego; 9500 Gilman Drive La Jolla CA 92093-0830 USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome;Bakay;Pediatr Res,1979

2. Uber familiar gichtische Diathese in Verbindung mit zerebralen und renalen Symptomen bei einem Kleinkind;Catel;Dtsch Med Wochenschr,1959

3. Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency;Davidson;Am J Hum Genet,1991

4. 5-Methylcytosine in eukaryotic DNA;Ehrlich;Science,1981

5. Isolation and characterization of a full length, expressible cDNA for human hypoxanthine guanine phosphoribosyl transferase;Jolly;Proc Natl Acad Sci USA,1983

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