Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity

Desmoplakin (DP) is an important component of desmosomes, essential in cell–cell connecting structures in stress‐bearing tissues. Over the years, many hundreds of pathogenic variants in DSP have been associated with different cutaneous and cardiac phenotypes or a combination, known as a cardiocutane...

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Detalles Bibliográficos
Autores principales: Vermeer, Mathilde C. S. C., Andrei, Daniela, Kramer, Duco, Nijenhuis, Albertine M., Hoedemaekers, Yvonne M., Westers, Helga, Jongbloed, Jan D. H., Pas, Hendri H., van den Berg, Maarten P., Silljé, Herman H. W., van der Meer, Peter, Bolling, Maria C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Concise Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322008/
https://www.ncbi.nlm.nih.gov/pubmed/35325485
http://dx.doi.org/10.1111/exd.14571

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322008/
https://www.ncbi.nlm.nih.gov/pubmed/35325485
http://dx.doi.org/10.1111/exd.14571

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