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Article

[Genetic screening of mutation hot-spots for nonsyndromic hearing loss in southern Jiangsu province with SNaPshot].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2011

Li Hong, Li Hai-bo, Mao Jun, Liu Min-juan, Cheng Hong-bo, Li Shi-lin, Chen Ying

Abstract excerpt

OBJECTIVE: To investigate the mutation frequency in 7 mutation hot-spots of deafness gene in southern Jiangsu province and verify the performance of the SNaPshot technology platform, designed for genetic screening of non-syndromic hearing loss (NSHL) in Chinese. METHODS: One hundred and twenty-five NSHL patients were enrolled. Amplification of 235delC, 299-300delAT in GJB2 gene, IVS7-2A>G, 2168 A>G in SLC26A4...

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Identifiers

PMID: 21811975
DOI: 10.3760/cma.j.issn.1003-9406.2011.04.005

Genes

GJB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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