A PLEC Isoform Identified in Skin, Muscle, and Heart

J Invest Dermatol. 2017 Feb;137(2):518-522. doi: 10.1016/j.jid.2016.09.032. Epub 2016 Oct 18.

Authors

Katarzyna B Gostyńska¹, Henny Lemmink², Jeroen Bremer³, Hendri H Pas³, Miranda Nijenhuis³, Peter C van den Akker², Richard J Sinke², Marcel F Jonkman³, Anna M G Pasmooij³

Affiliations

¹ University of Groningen, University Medical Center Groningen, Department of Dermatology, Center for Blistering Diseases, Groningen, the Netherlands. Electronic address: [email protected].
² University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
³ University of Groningen, University Medical Center Groningen, Department of Dermatology, Center for Blistering Diseases, Groningen, the Netherlands.

PMID: 27769846
DOI: 10.1016/j.jid.2016.09.032

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Case-Control Studies
Epidermolysis Bullosa Simplex / genetics*
Epidermolysis Bullosa Simplex / physiopathology
Exons / genetics
Female
Humans
Male
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Mutation*
Myocardium / pathology
Plectin / genetics*
Protein Isoforms / genetics*
Protein Splicing / genetics*
Sensitivity and Specificity
Skin / pathology
Skin / physiopathology

Substances

PLEC protein, human
Plectin
Protein Isoforms