Family studies of the Lesch‐Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis
- 13 May 1985
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 9 (1), 45-57
- https://doi.org/10.1007/bf01813902
Abstract
No abstract availableThis publication has 11 references indexed in Scilit:
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- Hypoxanthine‐guanine phosphoribosyltransferase variants: Correlation of clinical phenotype with enzyme activityJournal of Inherited Metabolic Disease, 1981
- Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.Proceedings of the National Academy of Sciences, 1980
- Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.Journal of Medical Genetics, 1977
- Detection of specific sequences among DNA fragments separated by gel electrophoresisJournal of Molecular Biology, 1975
- The diagnosis of the carrier state for the Lesch--Nyhan syndrome.1975
- Studies on Human Erythrocyte IMP: Pyrophosphate PhosphoribosyltransferaseEuropean Journal of Biochemistry, 1970