A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa

Acta Derm Venereol. 2019 Apr 1;99(4):460-461. doi: 10.2340/00015555-3133.

Authors

Julia Hoffmann¹, Federica Casetti, Antonia Reimer, Juna Leppert, Gabriele Grüninger, Cristina Has

Affiliation

¹ Department of Dermatology, University of Freiburg, Faculty of Medicine, DE-79104 Freiburg, Germany.

PMID: 30673110
DOI: 10.2340/00015555-3133

No abstract available

Keywords: blistering, epidermolysis bullosa, hemidesmosome, type XVII collagen, splicing.

MeSH terms

Alternative Splicing*
Autoantigens / genetics*
Autoantigens / metabolism
Cells, Cultured
Collagen Type XVII
DNA Mutational Analysis
Epidermolysis Bullosa, Junctional / diagnosis
Epidermolysis Bullosa, Junctional / genetics*
Epidermolysis Bullosa, Junctional / metabolism
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Keratinocytes / metabolism
Mutation*
Non-Fibrillar Collagens / genetics*
Non-Fibrillar Collagens / metabolism
Phenotype
Severity of Illness Index

Substances

Autoantigens
Non-Fibrillar Collagens