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Article

Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.

The Laryngoscope - 1 Dec 2009

Wu Chen-Chi, Lu Ying-Chang, Chen Pei-Jer, Liu Alyssa Yan-Zhen, Hwu Wuh-Liang, Hsu Chuan-Jen

Abstract excerpt

OBJECTIVES/HYPOTHESIS: To develop a cost-effective and robust genetic diagnostic tool for patients with idiopathic nonsyndromic sensorineural hearing impairment. STUDY DESIGN: Development of a diagnostic tool and validation in a prospective cohort. METHODS: Twenty common sequence variants in GJB2, SLC26A4, and the mitochondrial 12S rRNA gene were selected based on our previous epidemiological study. These...

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PMID: 19718752
DOI: 10.1002/lary.20621

Genes

GJB2

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