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Article

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

The British journal of dermatology - 1 Sept 2009

Nasir M, Latif A, Ajmal M, Ismail M, Hameed A

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19519837
DOI: 10.1111/j.1365-2133.2009.09275.x

Genes

ECM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family.PMID 19519837Read ↗

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

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

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

Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis.Semantic proximity Read ↗

Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family.Semantic proximity Read ↗

A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.Semantic proximity Read ↗

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab familiesSemantic proximity Read ↗

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

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

A novel missense mutation of the ECM1 gene in a Chinese patient with lipoid proteinosis.Semantic proximity Read ↗

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

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