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Article

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.

Journal of clinical laboratory analysis - 1 Apr 2021

Tao Jingwen, Duan Jialin, Pi Xiu, Wang Hong, Li Sheng

Abstract excerpt

BACKGROUND: Laminopathies caused by LMNA gene mutations are characterized by different clinical manifestations. Among them, cardiac involvement is one of the most severe phenotypes. CASE PRESENTATION: A 30-year-old man visited the hospital because of palpitations, shortness of breath, and fatigue. He also had muscular dystrophy, joint contractures, scoliosis, and mild dysphagia. A novel de novo heterozygous LMNA...

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Share to Aortic Valve
Share to Base Sequence
Share to Lamin Type A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33626194
DOI: 10.1002/jcla.23736
PMCID: PMC8059745

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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