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Functional characterization of desmin mutant p.P419S.
Brodehl A, Dieding M, Cakar H, Klauke B, Walhorn V, Gummert J, Anselmetti D, Milting H. Brodehl A, et al. Eur J Hum Genet. 2013 Jun;21(6):589-90. doi: 10.1038/ejhg.2012.212. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032110 Free PMC article. No abstract available.
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H. Brodehl A, et al. Circ Cardiovasc Genet. 2013 Dec;6(6):615-23. doi: 10.1161/CIRCGENETICS.113.000103. Epub 2013 Nov 7. Circ Cardiovasc Genet. 2013. PMID: 24200904
52 results