Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Clinical and experimental dermatology - 1 Jan 2012

Liu W, Xu W, Yang X, Lian S

Abstract excerpt

Lipoid proteinosis (LP), is caused by loss-of-function mutations in the gene for extracellular matrix protein 1 (ECM1), and has been mapped to chromosome 1q21. We report the case of a 49-year-old Chinese woman with LP, who presented with a hoarse voice, easily damaged skin with poor wound healing, lesions and scarring on the skin, and bead-like papules around the eyelids. On physical examination, yellowish...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to DNA Mutational Analysis
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Genetic Predisposition to Disease

Share to Mutation, Missense

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 22182433
DOI: 10.1111/j.1365-2230.2011.04153.x

Genes

ECM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel missense mutation of the ECM1 gene in a Chinese patient with lipoid proteinosis.PMID 22182433Read ↗

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

Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from 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 ↗

Oral and maxillofacial manifestations of lipoid proteinosis with a novel ECM1 mutation: case report and literature review.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 ↗

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

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).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 mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.Semantic proximity Read ↗

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

Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.