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Article

Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations.

Scientific reports - 2 Jun 2015

Yao Jun, Qian Xuli, Bao Jingxiao, Wei Qinjun, Lu Yajie, Zheng Heng, Cao Xin, Xing Guangqian

Abstract excerpt

A Chinese family was identified with clinical features of enlarged vestibular aqueduct syndrome (EVAS). The mutational analysis showed that the proband (III-2) had EVAS with bilateral sensorineural hearing loss and carried a rare compound heterozygous mutation of SLC26A4 (IVS7-2A>G, c.2167C>G), which was inherited from the same mutant alleles of IVS7-2A>G heterozygous father and c.2167C>G heterozygous mother....

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PMID: 26035154
DOI: 10.1038/srep10831
PMCID: PMC4451684

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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