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

dc.contributor.authorYuksel-Apak, M
dc.contributor.authorSahin, SE
dc.contributor.authorDupont, E
dc.contributor.authorSevers, NJ
dc.contributor.authorLeigh, IM
dc.contributor.authorKelsell, DP
dc.contributor.authorUyguner, O
dc.contributor.authorWollnik, B
dc.contributor.authorUzumcu, A
dc.contributor.authorNorgett, EE
dc.contributor.authorDindar, A
dc.contributor.authorNisli, K
dc.contributor.authorKayserili, H
dc.date.accessioned2021-03-05T08:05:27Z
dc.date.available2021-03-05T08:05:27Z
dc.date.issued2006
dc.identifier.citationUzumcu A., Norgett E., Dindar A., Uyguner O., Nisli K., Kayserili H., Sahin S., Dupont E., Severs N., Leigh I., et al., "Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome", JOURNAL OF MEDICAL GENETICS, cilt.43, 2006
dc.identifier.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_9719b5cd-eaa9-4794-9503-fe110b7085b3
dc.identifier.urihttp://hdl.handle.net/20.500.12627/101709
dc.identifier.urihttps://doi.org/10.1136/jmg.2005.032904
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564645/pdf/e05.pdf
dc.description.abstractBackground: 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.
dc.language.isoeng
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.titleLoss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.department, ,
dc.identifier.volume43
dc.identifier.issue2
dc.contributor.firstauthorID177903


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