Article
TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.
Journal of human genetics - 1 Sept 2012
Moteki Hideaki, Nishio Shin-ya, Hashimoto Shigenari, Takumi Yutaka, Iwasaki Satoshi, Takeichi Norihito, Fukuda Satoshi, Usami Shin-ichi
Abstract excerpt
TECTA gene encodes α-tectorin, the major component of noncollagenous glycoprotein of the tectorial membrane, and has a role in intracochlear sound transmission. The TECTA mutations are one of the most frequent causes of autosomal dominant (AD) hearing loss and genotype-phenotype correlations are associated with mutations of TECTA in exons according to α-tectorin domains. In this study, we investigated the...
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