Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency.

doi:10.3233/JIN-180080

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Article

Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency.

Journal of integrative neuroscience - 1 Jan 2018

Zhang Qing-Lin, Xu Ming-Jun, Wang Tian-Long, Zhu Zi-Qiong, Lai Fancai, Zheng Xiao-Chun

Abstract excerpt

To investigate the relationship between acetyl cholinesterase associated collagen gene (COLQ) mutation in patients with acetyl cholinesterase deficiency and its clinical characteristics. Serum and red blood cell acetyl cholinesterase from patients with acetyl cholinesterase deficiency (n=6) and normal controls (n=20) were measured by butyryl thiocholine substrate. COLQ gene variations were detected by sequencing....

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PMID: 29630557
DOI: 10.3233/JIN-180080

Genes

COLQ

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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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