Article
Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene.
Molecular medicine reports - 1 Jun 2018
Gao Dong, Ma Xianying, Lian Peiwen, Zhou Surong, Chen Jian
Abstract excerpt
Lipoid proteinosis (LP) is a rare form of dermatosis with autosomal recessive inheritance. The present study hypothesized that an extracellular matrix protein 1 (ECM1) gene mutation forms the pathological basis of LP. The association between ECM1 mutation and LP; however, requires further investigation and was thus investigated in the present study. Injury skin tissue samples from patients with LP were collected,...
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