Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos‐like syndrome

BACKGROUND: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell membrane. Desmoplakin (DSP) is the most abundant desmosomal protein with 2 isoforms produced by alternative splicing. METHODS: We describe a patien...

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Detalles Bibliográficos
Autores principales: Uzumcu, A, Norgett, E E, Dindar, A, Uyguner, O, Nisli, K, Kayserili, H, Sahin, S E, Dupont, E, Severs, N J, Leigh, I M, Yuksel‐Apak, M, Kelsell, D P, Wollnik, B
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2006
Materias:
Electronic Letter
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564645/
https://ncbi.nlm.nih.gov/pubmed/16467215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.032904
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