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Muscle-Related Plectinopathies

Plectin is a giant cytoskeletal crosslinker and intermediate filament stabilizing protein. Mutations in the human plectin gene (PLEC) cause several rare diseases that are grouped under the term plectinopathies. The most common disorder is autosomal recessive disease epidermolysis bullosa simplex wit...

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Detalles Bibliográficos
Autores principales: Zrelski, Michaela M., Kustermann, Monika, Winter, Lilli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466646/
https://www.ncbi.nlm.nih.gov/pubmed/34572129
http://dx.doi.org/10.3390/cells10092480