Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.
Pigors M, Kiritsi D, Krümpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C.
Pigors M, et al. Among authors: has c.
Hum Mol Genet. 2011 May 1;20(9):1811-9. doi: 10.1093/hmg/ddr064. Epub 2011 Feb 14.
Hum Mol Genet. 2011.
PMID: 21320868
As a constituent of both types of intercellular junctions, plakoglobin has multiple interaction partners and mutations in its gene [junction plakoglobin (JUP)] have been associated with mild cutaneous disease, palmoplantar keratoderma and arrhythmogenic heart disease. Here …
As a constituent of both types of intercellular junctions, plakoglobin has multiple interaction partners and mutations in its gene [j …