Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

Mutations of the human plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). In the present study we analyzed the downstream effects of PLEC mutations on plectin protein expression and localization, the structure of the extra...

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Detalles Bibliográficos
Autores principales: Winter, Lilli, Türk, Matthias, Harter, Patrick N., Mittelbronn, Michel, Kornblum, Cornelia, Norwood, Fiona, Jungbluth, Heinz, Thiel, Christian T., Schlötzer-Schrehardt, Ursula, Schröder, Rolf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4847350/
https://www.ncbi.nlm.nih.gov/pubmed/27121971
http://dx.doi.org/10.1186/s40478-016-0314-7

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