Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations

J Invest Dermatol. 2014 Mar;134(3):842-845. doi: 10.1038/jid.2013.373. Epub 2013 Sep 4.

Authors

Manuela Pigors¹, Agnes Schwieger-Briel¹, Juna Leppert¹, Dimitra Kiritsi¹, Jürgen Kohlhase², Leena Bruckner-Tuderman³, Cristina Has⁴

Affiliations

¹ Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany.
² Center for Human Genetics Freiburg, Freiburg, Germany.
³ Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany; Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany.
⁴ Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany. Electronic address: cristina.has@uniklinik-freiburg.de.

PMID: 24005056
DOI: 10.1038/jid.2013.373

No abstract available

Publication types

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

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Biopsy
Epidermolysis Bullosa Simplex / genetics*
Epidermolysis Bullosa Simplex / pathology
Family Health
Female
Genetic Heterogeneity*
Humans
Infant, Newborn
Male
Mutation
Pedigree

Substances

Adaptor Proteins, Signal Transducing
EXPH5 protein, human