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Article

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

Diagnostic pathology - 26 Jul 2011

Nasir Muhammad, Latif Amir, Ajmal Muhammad, Qamar Reem, Naeem Muhammad, Hameed Abdul

Abstract excerpt

UNLABELLED: Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood that is caused by homozygous or compound heterozygous mutations in the ECM1 gene located on chromosome 1q21. The aim of the study was to investigate the molecular genetic defect underlying lipoid proteinosis in a consanguineous Pakistani family. METHODS:...

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Source

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Identifiers

PMID: 21791056
DOI: 10.1186/1746-1596-6-69
PMCID: PMC3158550

Genes

ECM1

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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.

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