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Article

Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss.

European journal of medical genetics - 1 Feb 2022

Jin Xiaohua, Zhang Lu, Wang Xinjie, An Lisha, Huang Shasha, Dai Pu, Gao Huafang, Ma Xu

Abstract excerpt

Hereditary hearing loss is a common defect of the auditory nervous system with high-incidence, seriously affecting the quality of life of the patients. The clinical manifestations of SLC26A4 mutation-related hearing loss are congenital sensorineural or mixed deafness. Sensitive and specific SLC26A4 mutation detection in the early clinical stage is key for the early indication of potential hearing loss in the lack...

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PMID: 34968750
DOI: 10.1016/j.ejmg.2021.104406

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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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