Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism
- 2 July 1992
- journal article
- letter
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 327 (1) , 57
- https://doi.org/10.1056/nejm199207023270116
Abstract
Wilson's disease is an autosomal-recessive disorder of copper metabolism characterized by the accumulation of copper in the liver, brain, and other organs. The cause of the defect is unknown. It is not possible to identify carriers with conventional biochemical methods.1 , 2Keywords
This publication has 3 references indexed in Scilit:
- Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.Journal of Medical Genetics, 1989
- Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's diseaseHuman Genetics, 1988
- Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.Proceedings of the National Academy of Sciences, 1985