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Article

[Two novel mutations of FBN1 gene in the patients with MFS among Han population].

Yi chuan = Hereditas - 1 Jan 2010

Chen Qing-Quan, Wu Yan-An, Huang Xiao-Li, Chen Tong, Huang Yi, Chen Fa-Lin, Chen Fa-Wen

Abstract excerpt

To detect the mutations of fibrillin-1 (FBN1) gene in the patients with Marfan syndrome (MFS), polymerase chain reaction (PCR) and denaturing high-performance liquid chromatography (DHPLC) were conducted to screen for the mutations in FBN1 gene. Sequence analyses were carried out when the DNA amp...

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Identifiers

PMID: 20085885
DOI: 10.3724/sp.j.1005.2010.00049

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20085885-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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