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Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.

Acta dermato-venereologica - 1 Jan 2009

Horev Liran, Wollina Dr Uwe, Potikha Tamara, Hafner Ariela, Ingber Arieh, Liu Lu, McGrath John A, Zlotogorski Abraham

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PMID: 19734986
DOI: 10.2340/00015555-0673

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Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.PMID 19734986Read ↗

Novel human pathological mutations. Gene symbol: ECM1. Disease: Lipoid Proteinosis.Semantic proximity Read ↗

Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA.Semantic proximity Read ↗

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A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis.Semantic proximity Read ↗

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Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin.Semantic proximity Read ↗

Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis.Semantic proximity Read ↗

Lipoid proteinosis: A clinical and molecular study in Egyptian patients.Semantic proximity Read ↗

Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation.Semantic proximity Read ↗

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.Semantic proximity Read ↗

A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.Semantic proximity Read ↗

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.Semantic proximity Read ↗

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