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Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype.

Chinese medical journal - 1 Oct 2010

Gao Ling-gen, Zhang Lin, Song Lei, Wang Hu, Chang Qian, Wu Yong-bo, Hui Ru-tai, Zhou Xian-liang

Abstract excerpt

BACKGROUND: Mutations in the fibrillin-1 gene have been identified in patients with Marfan syndrome (MFS). This study aimed to identify the molecular defects in the fibrillin-1 gene in a Chinese family with Marfan syndrome, accompanied by aortic aneurysms/dissection. METHODS: Two patients and one...

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PMID: 21034599

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21034599-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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