Brodehl, Andreas; Hain, Carsten; Flottmann, Franziska; Ratnavadivel, Sandra; Gaertner, Anna; Klauke, Barbel; Kalinowski, Jörn; Korperich, Hermann; Gummert, Jan; Paluszkiewicz, Lech; Deutsch, Marcus-Andre; Milting, Hendrik: The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3. In: Biomedicines. Jg.9 H. 10. 2021
Inhalt
- Materials and Methods
- Clinical Description of the Index Patient (III-9)
- Genetic Analyses
- Reverse Transcription Polymerase Chain Reaction
- Amplicon Nanopore Sequencing
- Immunohistochemistry
- Plasmid Generation
- Cell Culture and Confocal Microscopy
- Western Blot Analysis
- Statistical Analysis
- Results
- Discussion
- Conclusions
- References