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Hereditary hemorrhagic telangiectasia. From diagnosis to therapy


Researchers at the laboratory study hereditary hemorrhagic telangiectasia type 1 and develop a cellular test to discriminate between genetic variants without functional consequences, and mutants that can be predicted to be pathogenic. This test can be used by geneticists as a diagnostic tool for the study of new mutations and opens the way to new therapeutic perspectives.

Published on 18 November 2014
Highlight available in French.


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