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Article

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

BMC medical genetics - 11 Apr 2013

Foffa Ilenia, Ait Alì Lamia, Panesi Paola, Mariani Massimiliano, Festa Pierluigi, Botto Nicoletta, Vecoli Cecilia, Andreassi Maria Grazia

Abstract excerpt

BACKGROUND: The purpose of our study was to investigate the potential contribution of germline mutations in NOTCH1, GATA5 and TGFBR1 and TGFBR2 genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV). METHODS: All the coding exons including adjacent intronic as well as 5' and 3' untranslated (UTR) sequences of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes were screened by direct gene sequencing...

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Source

Open in PubMed Open full text

Identifiers

PMID: 23578328
DOI: 10.1186/1471-2350-14-44
PMCID: PMC3637327

Genes

NOTCH1
GATA5
TGFBR1
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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