Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference18 articles.
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4. Studies on hypoxanthine-guanine-phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome;Kelley;J. Biol. Chem.,1971
5. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Heterozygote has two clonal populations;Migeon;Science,1968
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1. 2012 William Allan Award: Adventures in Cytogenetics1;The American Journal of Human Genetics;2013-03
2. Genetic Heterogeneity at the Locus for Hypoxanthine-Guanine Phosphoribosyltransferase;Ciba Foundation Symposium 48 - Purine and Pyrimidine Metabolism;2008-05-30
3. Detection of Lesch-Nyhan Syndrome Carriers: Analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography;Clinical Genetics;2008-04-23
4. Heterozygote detection in glucose-6-phosphate dehydrogenase deficiency: limitation of hair follicle analysis;Clinical Genetics;2008-04-23
5. Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose-6-phosphate dehydrogenase deficiency in neonates;Journal of Inherited Metabolic Disease;2000-11
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