Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests

A familial disorder of uric acid metabolism and central nervous system function

Michael Lesch, William L. Nyhan · The American Journal of Medicine · 1964 · 1.5K citations

Life Sciences, Neurology, Neuroscience +9

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

J. Edwin Seegmiller, Frederick M. Rosenbloom, William N. Kelley · Science · 1967 · 1.2K citations

Life Sciences, Biochemistry, Neurology +14

Automated DNA sequencing of the human HPRT locus

Al Edwards, Hartmut Voss, Peter Rice et al. · Genomics · 1990 · 354 citations

Life Sciences, Genetics, Molecular Biology +8

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

Richard A. Gibbs, P N Nguyen, Al Edwards et al. · Genomics · 1990 · 325 citations

Life Sciences, Genetics, Molecular Genetics +13

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

Richard A. Gibbs, P N Nguyen, Lincoln J. McBride et al. · Proceedings of the National Academy of Sciences · 1989 · 277 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17