Article
A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.
Experimental dermatology - 1 Dec 2005
Horev Liran, Potikha Tamara, Ayalon Sharon, Molho-Pessach Vered, Ingber Arieh, Gany Mohamad Abdel, Edin Basel Sad, Glaser Benjamin, Zlotogorski Abraham
Abstract excerpt
Lipoid proteinosis (LP) (OMIM 247100) is a rare, autosomal recessive disorder. Recent studies have shown that LP is the result of reduced expression of the extracellular matrix protein gene (ECM-1), in which loss-of-function mutations have been described. In the present report, we describe a large consanguineous family with LP. We identified a homozygous splice-site mutation in intron 1 (IVS1 + 1G-->C) in three...
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