Gain-of-function mutation in ubiquitin ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues
Author:
Funder
Human Frontier Science Program
Vlinderkind
European Research Counsel
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/140615/files/pdf
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5. Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility;He;Am J Hum Genet,2016
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