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Article

p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.

Gene - 1 Aug 2014

Guo Hong, Luo Na, Hao Fei, Bai Yun

Abstract excerpt

Hutchinson-Gilford progeria syndrome (HGPS) is a typical presenile disorder, with mutation in the LMNA gene. Besides HGPS, mutations in LMNA gene have also been reported in atypical progeroid syndrome (APS). The objective of the study was to investigate the phenotype and molecular basis of APS in a Chinese family. LMNA gene mutations were also reviewed to identify the phenotypic and pathogenic differences among...

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Source

Identifiers

PMID: 24861648
DOI: 10.1016/j.gene.2014.05.042

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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