The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Investigative Dermatology - Volume 134, Issue 3, March 2014, Pages 845-849

Cristina Has, Dimitra Kiritsi, Jemima E. Mellerio, Claus-Werner Franzke, Emma Wedgeworth, Iliana Tantcheva-Poor, Kristin Kernland-Lang, Peter Itin, Michael A. Simpson, Patricia J. Dopping-Hepenstal, Wataru Fujimoto, John A. McGrath,