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Article

Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development.

PloS one - 1 Jan 2011

Rodríguez Sofía, Eriksson Maria

Abstract excerpt

Today, there are at least a dozen different genetic disorders caused by mutations within the LMNA gene, and collectively, they are named laminopathies. Interestingly, the same mutation can cause phenotypes with different severities or even different disorders and might, in some cases, be asymptomatic. We hypothesized that one possible contributing mechanism for this phenotypic variability could be the existence...

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Identifiers

PMID: 21980471
DOI: 10.1371/journal.pone.0025472
PMCID: PMC3183053

Genes

LMNA

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.

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