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Molecular evidence for non-penetrance in Best's disease

Weber, Bernhard H. F. , Walker, D and Müller, B (1994) Molecular evidence for non-penetrance in Best's disease. Journal of Medical Genetics 31 (5), pp. 388-392.

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Abstract

The present study provides evidence for a possible case of non-penetrance in Best's disease. We have analysed the at risk members of a three generation family with an established history of Best's disease by ophthalmoscopic examination, electrophysiological tests, and genetic analysis. The clinical examination identified 10 affected and five unaffected persons in this family. Genetic linkage ...

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Item type:Article
Date:1994
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1136/jmg.31.5.388DOI
8064817PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35336
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