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Article

Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis.

Analytical biochemistry - 15 Jun 2009

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

Abstract excerpt

Marfan syndrome has been associated with approximately 562 mutations in the fibrillin-1 (FBN1) gene. Mutation scanning of the FBN1 gene with DNA direct sequencing is time-consuming and expensive because of its large size. This study analyzed the diagnostic value of high-resolution melting analysis as an alternative method for scanning of the FBN1 gene. A total of 75 polymerase chain reaction (PCR) amplicons...

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Identifiers

PMID: 19328768
DOI: 10.1016/j.ab.2009.03.032

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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