Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis
- 1 February 1989
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 81 (3) , 287-288
- https://doi.org/10.1007/bf00279006
Abstract
Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysis, this deletion was masked by hybridization of bands from the other allele.This publication has 11 references indexed in Scilit:
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