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Article

Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction.

Human mutation - 1 Oct 2021

Abou Ziki Maen D, Bhat Neha, Neogi Arpita, Driscoll Tristan P, Ugwu Nelson, Liu Ya, Smith Emily, Abboud Johny M, Chouairi Salah, Schwartz Martin A, Akar Joseph G, Mani Arya

Abstract excerpt

The genetic causes of atrial fibrillation (AF) with slow conduction are unknown. Eight kindreds with familial AF and slow conduction, including a family affected by early-onset AF, heart block, and incompletely penetrant nonischemic dilated cardiomyopathy (DCM) underwent whole exome sequencing. A known pathogenic mutation in the desmin (DES) gene resulting in p.S13F substitution (NM_001927.3:c.38C>T) at a PKC...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34289528
DOI: 10.1002/humu.24265
PMCID: PMC8434967

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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