The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome

J Invest Dermatol. 2014 Mar;134(3):845-849. doi: 10.1038/jid.2013.367. Epub 2013 Sep 4.

¹ Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
² St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
³ Department of Dermatology, University of Cologne, Cologne, Germany.
⁴ Department of Dermatology, University of Bern, Bern, Switzerland.
⁵ Department of Dermatology, University of Basel, Basel, Switzerland.
⁶ Department of Medical and Molecular Genetics, King's College London, London, UK.
⁷ GSTS Pathology, St Thomas' Hospital, London, UK.
⁸ Department of Dermatology, Kawasaki Medical School, Okayama, Japan.
⁹ Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany; Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany. Electronic address: bruckner-tuderman@uniklinik-freiburg.de.

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