Article
Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.
PLoS genetics - 1 Feb 2014
Sproule Thomas J, Bubier Jason A, Grandi Fiorella C, Sun Victor Z, Philip Vivek M, McPhee Caroline G, Adkins Elisabeth B, Sundberg John P, Roopenian Derry C
Abstract excerpt
Epidermolysis Bullosa (EB) encompasses a spectrum of mechanobullous disorders caused by rare mutations that result in structural weakening of the skin and mucous membranes. While gene mutated and types of mutations present are broadly predictive of the range of disease to be expected, a remarkable amount of phenotypic variability remains unaccounted for in all but the most deleterious cases. This unexplained...
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