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Article

A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene.

Journal of molecular and cellular cardiology - 1 Jul 1997

Pepe G, Giusti B, Attanasio M, Comeglio P, Porciani M C, Giurlani L, Montesi G F, Calamai G C, Vaccari M, Favilli S, Abbate R, Gensini G F

Abstract excerpt

The aim of our study was to characterize the molecular defect in Italian Marfan patients, thus contributing to the effort of correlating the genotype with the phenotype. In particular, our ultimate goal was to identify the region(s) of the fibrillin 1 (FBN1) gene mainly involved in the health of...

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Source

Identifiers

PMID: 9236141
DOI: 10.1006/jmcc.1997.0426

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9236141-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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