Fabry's disease: Heterozygote detection
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T. Grimm; T. F. Wienker; H. -H. Ropers
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Article
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1976
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Springer
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English
โ 351 KB
Fabry's disease (angiokeratoma corporis diffusum) can be diagnosed by determination of alpha-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 o