The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
Has C, Kiritsi D, Mellerio JE, Franzke CW, Wedgeworth E, Tantcheva-Poor I, Kernland-Lang K, Itin P, Simpson MA, Dopping-Hepenstal PJ, Fujimoto W, McGrath JA, Bruckner-Tuderman L.
Has C, et al. Among authors: dopping hepenstal pj.
J Invest Dermatol. 2014 Mar;134(3):845-849. doi: 10.1038/jid.2013.367. Epub 2013 Sep 4.
J Invest Dermatol. 2014.
PMID: 24005051
Free article.
No abstract available.