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Article

Two novel HAND1 mutations in Chinese patients with ventricular septal defect.

Clinica chimica acta; international journal of clinical chemistry - 11 Apr 2012

Cheng Zhi, Lib Lin, Li Zhongzhi, Liu Mugen, Yan Jinting, Wang Binbin, Ma Xu

Abstract excerpt

BACKGROUND: The HAND1 gene encodes a basic helix-loop-helix (bHLH) transcription factor which plays an essential role in the development of heart. Mutations in HAND1 have been identified in congenital heart disease (CHD) patients with hypoplastic hearts and septal defects. The spectrum of CHD relating to HAND1 mutations needs further study. METHODS AND RESULTS: We screened HAND1 coding regions for mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22032825
DOI: 10.1016/j.cca.2011.10.014

Genes

HAND1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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