Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families

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Bibliographic Details
Published in:Clinical genetics 2016-11, Vol.90 (5), p.466-467
Main Authors: Major, T., Gindele, R., Szabó, Z., Alef, T., Thiele, B., Bora, L., Kis, Z., Bárdossy, P., Rácz, T., Havacs, I., Bereczky, Z.
Format: Article
Language:English
Subjects:
Founder effect
Hemorrhage
Hereditary hemorrhagic telangiectasia
Mutation
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ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12806