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Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case

Ewa Wypasek1,2, Daniel P Potaczek2,3, Marcin Hydzik2

  • 1Institute of Cardiology, Jagiellonian University School of Medicine, 80 Pradnicka St., 31-202 Cracow, Poland.

Clinical Chemistry and Laboratory Medicine
|December 10, 2017
PubMed
Abstract

No abstract available in PubMed .

Keywords:
(frameshift) mutationFBN1Marfan syndrome (MFS)fibrillin-1splicing

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