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Article

Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.

Annals of human genetics - 1 Nov 2009

Hung Chia-Cheng, Lin Shin-Yu, Lee Chien-Nan, Cheng Hui-Yu, Lin Shuan-Pei, Chen Ming-Ren, Chen Chih-Ping, Chang Chien-Hui, Lin Chiou-Ya, Yu Chih-Chieh, Chiu Hsin-Hui, Cheng Wen-Fang, Ho Hong-Nerng, Niu Dau-Ming, Su Yi-Ning

Abstract excerpt

The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese population. In this study, we screened 294 patients from 157 families for the presence of FBN1 mutations using polymerase chain reaction/ denatu...

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Source

Identifiers

PMID: 19839986
DOI: 10.1111/j.1469-1809.2009.00545.x

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19839986-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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