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Novel human pathological mutations. Gene symbol: ECM1. Disease: Lipoid Proteinosis.

Human genetics - 1 Aug 2009

Hameed Abdul, Nasir Muhammmad, Ajmal Muhammad, Latif Latif

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Share to Base Sequence
Share to DNA Mutational Analysis
Share to Extracellular Matrix Proteins
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 19694009

Genes

ECM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel human pathological mutations. Gene symbol: ECM1. Disease: Lipoid Proteinosis.PMID 19694009Read ↗

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

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

A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family.Semantic proximity Read ↗

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

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

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

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

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.Semantic proximity Read ↗

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

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

Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.Semantic proximity Read ↗

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