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Article

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

BMC medical genetics - 18 Dec 2015

Tjeldhorn Lena, Amundsen Silja Svanstrøm, Barøy Tuva, Rand-Hendriksen Svend, Geiran Odd, Frengen Eirik, Paus Benedicte

Abstract excerpt

BACKGROUND: Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders. In the present study, qualitative and quantitative effects of 16 mutations, identified in FBN1 in MFS patients with systematically described phenotypes, were investigated in vitro. METHODS: Qualitative analysis was performed with reverse transcription-PCR (RT-PCR)...

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Source

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Identifiers

PMID: 26684006
DOI: 10.1186/s12881-015-0260-4
PMCID: PMC4683784

Genes

FBN1

Variants

Provenance

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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