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Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect

Published on Jun 1, 2019in Human Mutation4.45
· DOI :10.1002/humu.23747
A. V. Marakhonov5
Estimated H-index: 5
,
Andrey Marakhonov (Far Eastern Federal University)+ 16 AuthorsMikhail Skoblov1
Estimated H-index: 1
(Far Eastern Federal University)
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#2Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 4
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#1Jaap I. van Waning (EUR: Erasmus University Rotterdam)H-Index: 1
#2Kadir Caliskan (EUR: Erasmus University Rotterdam)H-Index: 19
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#2Angela Lorts (Cincinnati Children's Hospital Medical Center)H-Index: 16
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View next paperAssembly defects of desmin disease mutants carrying deletions in the α-helical rod domain are rescued by wild type protein