Fabry's disease: Heterozygote detection by hair root analysis
- 1 January 1976
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 32 (3) , 329-334
- https://doi.org/10.1007/bf00295824
Abstract
Fabry's disease (angiokeratoma corporis diffusum) can be diagnosed by determination of α-galactosidase activity in single hair roots. A technique has been developed permitting subsequent analysis of enzyme activity and protein content of hair root cells. We have applied this method examining 8 obligatorily heterozygous sisters as well as their 5 daughters and 10 sons. Especially for identification of heterozygotes, the method described proved to be easy and reliable.This publication has 16 references indexed in Scilit:
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