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Acta Dermato-Venereologica
(Feb 2019)
A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa
Julia Hoffmann,
Federica Casetti,
Antonia Reimer,
Juna Leppert,
Gabriele Grüninger,
Cristina Has
Affiliations
Julia Hoffmann
Department of Dermatology, University of Freiburg, Faculty of Medicine, DE-79104 Freiburg, Germany.
Federica Casetti
Antonia Reimer
Juna Leppert
Gabriele Grüninger
Cristina Has
DOI
https://doi.org/10.2340/00015555-3133
Journal volume & issue
Vol. 99, no. 4
pp. 460 – 461
Abstract
Read online
No abstracts available.
Keywords
blistering, epidermolysis bullosa, hemidesmosome, type XVII collagen, splicing
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