Article
Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation.
Clinical chemistry and laboratory medicine - 28 Mar 2018
Wypasek Ewa, Potaczek Daniel P, Hydzik Marcin, Stapor Renata, Raczkowska-Muraszko Marta, Weiss Janneke, Maugeri Alessandra, Undas Anetta
Abstract excerpt
No abstract is available from the source.
Topics
- Adult
- DNA Mutational Analysis
- Fibrillin-1
- Humans
- Introns
- Male
- Marfan Syndrome
- Mutation
