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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Detalhes bibliográficos
Publicado no:Acta Neuropathol Commun
Main Authors: Winter, Lilli, Türk, Matthias, Harter, Patrick N., Mittelbronn, Michel, Kornblum, Cornelia, Norwood, Fiona, Jungbluth, Heinz, Thiel, Christian T., Schlötzer-Schrehardt, Ursula, Schröder, Rolf
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4847350/
https://ncbi.nlm.nih.gov/pubmed/27121971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-016-0314-7
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