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Article

Collagen expression in fibroblasts with a novel LMNA mutation.

Biochemical and biophysical research communications - 19 Jan 2007

Nguyen Desiree, Leistritz Dru F, Turner Lesley, MacGregor David, Ohson Kamal, Dancey Paul, Martin George M, Oshima Junko

Abstract excerpt

Laminopathies are a group of genetic disorders caused by LMNA mutations; they include muscular dystrophies, lipodystrophies, and progeroid syndromes. We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features. Examination of the nuclei of dermal fibroblasts revealed the irregular morphology characteristic of LMNA mutant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17150192
DOI: 10.1016/j.bbrc.2006.11.070
PMCID: PMC1867458

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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