A COL7A1 variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa

Br J Dermatol. 2015 Nov;173(5):1308-11. doi: 10.1111/bjd.13945. Epub 2015 Aug 26.

Authors

A Schwieger-Briel¹, L Weibel^{2

3}, N Chmel¹, J Leppert¹, K Kernland-Lang⁴, G Grüninger¹, C Has¹

Affiliations

¹ Department of Dermatology, Medical Center, University of Freiburg, Hauptstrasse 7, Freiburg, 79104, Germany.
² Department of Paediatric Dermatology, University Children's Hospital Zurich, University Hospital Zurich, Zurich, Switzerland.
³ Department of Dermatology, University Children's Hospital Zurich, University Hospital Zurich, Zurich, Switzerland.
⁴ Department of Dermatology, University Hospital Bern, Bern, Switzerland.

PMID: 26076072
DOI: 10.1111/bjd.13945

No abstract available

Publication types

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

MeSH terms

Amino Acid Sequence / genetics
Collagen Type VII / genetics*
Epidermolysis Bullosa Dystrophica / genetics*
Exons / genetics
Humans
Infant
Male
Mutation / genetics*
Polymorphism, Single Nucleotide / genetics*
Sequence Deletion / genetics

Substances

COL7A1 protein, human
Collagen Type VII