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[Fibrillin-1 gene mutation in Chinese patients with Marfan syndrome and its gene diagnosis by haplotype analysis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2003

Wang Bing, Hu Dong-xu, Xia Jia-hui, Li Qi, Lu Guo-hua

Abstract excerpt

OBJECTIVE: To analyze fibrillin-1 (FBN(1)) gene mutation in Chinese patients with Marfan syndrome(MFS) and to make a gene diagnosis by haplotype analysis for MFS. METHODS: Nine MFS families were analysed with single strand conformation polymorphism(SSCP) and DNA sequencing. With the use of four p...

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PMID: 12579488

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12579488-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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