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Article

Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.

Proteins - 1 Jun 2014

Scharner Juergen, Lu Hui-Chun, Fraternali Franca, Ellis Juliet A, Zammit Peter S

Abstract excerpt

Mutations in A-type nuclear lamins cause laminopathies. However, genotype-phenotype correlations using the 340 missense mutations within the LMNA gene are unclear: partially due to the limited availability of three-dimensional structure. The immunoglobulin (Ig)-like fold domain has been solved, a...

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Share to Aging, Premature
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipodystrophy

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Source

Identifiers

PMID: 24375749
DOI: 10.1002/prot.24465

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24375749-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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