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The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.
Protonotarios A, Brodehl A, Asimaki A, Jager J, Quinn E, Stanasiuk C, Ratnavadivel S, Futema M, Akhtar MM, Gossios TD, Ashworth M, Savvatis K, Walhorn V, Anselmetti D, Elliott PM, Syrris P, Milting H, Lopes LR. Protonotarios A, et al. Among authors: anselmetti d. Can J Cardiol. 2021 Jun;37(6):857-866. doi: 10.1016/j.cjca.2020.11.017. Epub 2020 Dec 5. Can J Cardiol. 2021. PMID: 33290826
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. Among authors: anselmetti d. 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.
132 results