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Article

Mutational analysis of the human MESP1 gene in patients with congenital heart disease reveals a highly variable sequence in exon 1.

European journal of medical genetics - 1 Nov 2013

Lahm Harald, Deutsch Marcus-André, Dreßen Martina, Doppler Stefanie, Werner Astrid, Hörer Jürgen, Cleuziou Julie, Schreiber Christian, Böhm Johannes, Laugwitz Karl-Ludwig, Lange Rüdiger, Krane Markus

Abstract excerpt

MESP1 represents an essential transcription factor to guarantee coordinated cardiac development. The expression of MESP1 is thought to be the first sign that a cell has been committed to the cardiac lineage. We analyzed the coding sequence of MESP1 in 215 patients with congenital heart disease. Our results show that the sequence of exon 1 is highly variable with up to seven alterations in individual samples. Five...

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Source

Identifiers

PMID: 24056064
DOI: 10.1016/j.ejmg.2013.09.001

Genes

MESP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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