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Article

Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.

Biochemical and biophysical research communications - 14 Jul 2006

Mohamed Salah A, Aherrahrou Zouhair, Liptau Henrike, Erasmi Armin W, Hagemann Carolin, Wrobel Sandra, Borzym Katja, Schunkert Heribert, Sievers Hans H, Erdmann Jeanette

Abstract excerpt

The bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, occurring in 1-2% of the population. In a recent report, mutations in NOTCH1 a signaling and transcriptional regulator have been shown to cause BAV in two families. This study provides data on systematic sequencin...

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Topics

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Share to Amino Acid Sequence
Share to Aortic Valve
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Heart Valve Diseases

Share to Mutation, Missense

Share to Receptor, Notch1

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 16729972
DOI: 10.1016/j.bbrc.2006.05.046

Genes

NOTCH1
MAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16729972-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.PMID 16729972Read ↗

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