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Article

Molecular analysis of SLC26A4 gene in a Chinese deafness family.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2005

Hu Hao, Liang De-sheng, Wu Ling-qian, Feng Yong, Cai Fang, Xia Kun, Pan Qian, Long Zhi-gao, Dai He-ping, Xia Jia-hui

Abstract excerpt

OBJECTIVE: To identify the pathogenic gene for a non-syndromic hearing loss family. METHODS: Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene. RESULTS: Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was detected in the father, heterozygous...

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PMID: 16086271

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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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