Ontology highlight
ABSTRACT:
SUBMITTER: Yasukawa R
PROVIDER: S-EPMC6826443 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Yasukawa Rika R Moteki Hideaki H Nishio Shin-Ya SY Ishikawa Kotaro K Abe Satoko S Honkura Yohei Y Hyogo Misako M Mihashi Ryota R Ikezono Tetsuo T Shintani Tomoko T Ogasawara Noriko N Shirai Kyoko K Yoshihashi Hiroshi H Ishino Takashi T Otsuki Koshi K Ito Tsukasa T Sugahara Kazuma K Usami Shin-Ichi SI
Genes 20190924 10
<i>TECTA</i> is well known as a causative gene for autosomal dominant mid-frequency hearing loss observed in various populations. In this study, we performed next-generation sequencing analysis of a large Japanese hearing loss cohort, including eight hundred and twelve (812) subjects from unrelated autosomal dominant hearing loss families, to estimate the prevalence and phenotype-genotype correlations in patients with <i>TECTA</i> mutations. The prevalence of <i>TECTA</i> mutations in Japanese a ...[more]