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[Screening of FBN1 gene mutations in a family with Marfan syndrome].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Nov 2010

Hao Peng, Tang Xin, Song Hui, Wang Li-ming, Wang Yu-chuan, Ying Ming, Han Rui-fang, Li Ning-dong

Abstract excerpt

OBJECTIVE: To identify FBN1 gene mutations in a Chinese family with Marfan syndrome. METHODS: Four affected and two unaffected individuals in the family were recruited after informed consent. Five ml blood samples were drawn from each family member and genomic DNA was extracted. Mutations were detected by directly sequencing to the whole coding region and exon-intron boundaries of FBN1 gene. Polyphen program was...

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Identifiers

PMID: 21211293

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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