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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#1Andreas Brodehl (RUB: Ruhr University Bochum)H-Index: 8
#2Anna Gaertner-Rommel (RUB: Ruhr University Bochum)H-Index: 4
Last.Hendrik Milting (RUB: Ruhr University Bochum)H-Index: 26
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#1Jaap I. van Waning (EUR: Erasmus University Rotterdam)H-Index: 1
#2Kadir Caliskan (EUR: Erasmus University Rotterdam)H-Index: 19
Last.Ad P.C.M. Backx (VU: VU University Amsterdam)H-Index: 2
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#1Jeffrey A. Towbin (Cincinnati Children's Hospital Medical Center)H-Index: 118
#2Angela Lorts (Cincinnati Children's Hospital Medical Center)H-Index: 16
Last.John L. Jefferies (Cincinnati Children's Hospital Medical Center)H-Index: 31
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