Article
GJB2 mutation spectrum in the Taiwanese population and genotype-phenotype comparisons in patients with hearing loss carrying GJB2 c.109G>A and c.235delC mutations.
Hearing research - 1 Jan 2022
Lin Yi-Feng, Lin Hung-Ching, Tsai Chia-Ling, Hsu Yi-Chao
Abstract excerpt
Hearing loss, the most common sensory abnormality, is caused by the death of or damage to inner ear hair cells. Genetic mutations are the main cause of hearing loss. We used nex-generation sequencing data released by the Taiwan Biobank to investigate the GJB2 mutation spectrum in 1517 patients. We compared hearing function in Taiwanese patients with nonsyndromic hearing loss (NSHL) caused by the two most common...
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