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[Mutations in the gene coding for the extra-cellular 1 matricial protein in lipoid proteinosis].

Annales de dermatologie et de venereologie - 1 Apr 2004

Dereure O

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15258525
DOI: 10.1016/s0151-9638(04)93630-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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[Mutations in the gene coding for the extra-cellular 1 matricial protein in lipoid proteinosis].PMID 15258525Read ↗

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 ↗

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

[Gene mutations responsible for hyperlipoproteinemia].Semantic proximity Read ↗

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

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

[Gene mutations in the enzymes involved in lipid metabolism].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 ↗

[Mutation of lamine A or the ZMPSTE 24 gene in restrictive dermopathy].Semantic proximity Read ↗

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

[A pathogenic variation of HRAS gene causing Costello syndrome: a Ras/MAPK pathway syndrome].Semantic proximity Read ↗

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

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