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[Two gene mutations in fibrillin 1 of Marfan syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2007

Chen Xi-jun, Wu Yan-an, Chen Fa-wen, Chen Fa-lin, Huang Yi, Huang Xiao-li, Ma Xiao-ning, Chen Tong

Abstract excerpt

OBJECTIVE: To detect novel mutations in the fibrillin 1 (FBN1) and transforming growth factor beta receptor type II (TGFBR2) genes by screening the genes from 14 patients with Marfan syndrome. METHODS: Denaturing high performance liquid chromatography (DHPLC) was introduced to screen for FBN1 and TGFBR2 mutations exon-by-exon. The DNA amplification fragments which DHPLC elution profiles showed different from the...

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Source

Identifiers

PMID: 17680538

Genes

FBN1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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