A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

This study shows that gain‐of‐function variants in KLHL24 causing EBS and DCM, do not only originate in the start‐codon and suggest that any nonsense‐inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a similar potential lethal phenotype.[Image: see...

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Detalles Bibliográficos
Autores principales: Vermeer, Mathilde C.S.C., Al‐Shinnag, Mohammad, Silljé, Herman H.W., Gaytan, Antonio Esquivel, Murrell, Dedee F., McGaughran, Julie, Melbourne, Wei, Cowan, Timothy, van den Akker, Peter C., van Spaendonck‐Zwarts, Karin Y., van der Meer, Peter, Bolling, Maria C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Letters
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087812/
https://www.ncbi.nlm.nih.gov/pubmed/35975634
http://dx.doi.org/10.1111/bjd.21832

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087812/
https://www.ncbi.nlm.nih.gov/pubmed/35975634
http://dx.doi.org/10.1111/bjd.21832

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