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Article

[Value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2017

Sun Xuejing, Xing Xinli, He Qingqing, Zhou Lin, Zhang Jing, Zhao Qing, Hou Huili, Xi Zuoming

Abstract excerpt

OBJECTIVE: To assess the value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness. METHODS: In this study, 2168 couples with normal hearing were screened for common mutations associated with congenital deafness using real-time fluorescence quantitative PCR. The mutations have included GJB2 c.235delC and c.299_300delAT, SLC26A4 c.2168A>G and...

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Identifiers

PMID: 28981942
DOI: 10.3760/cma.j.issn.1003-9406.2017.05.023

Genes

GJB2

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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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