2011 Fiscal Year Final Research Report
Prevalence and clinical features of hearing loss patients with CDH23 mutations.
| Project/Area Number |
21791607
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Shinshu University |
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Principal Investigator |
WAGATSUMA Michio 信州大学, 医学部・附属病院, 特任研究員 (00419409)
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| Co-Investigator(Renkei-kenkyūsha) |
MIYAGAWA Maiko 信州大学, 医学部・附属病院, 医員 (60467165)
NISHIO Shin-ya 信州大学, 医学部, 助教 (70467166)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 感音難聴 / 内耳 / 遺伝性難聴 / CDH23 |
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| Research Abstract |
CDH23 is likely to be an important cause for hearing loss patients but the prevalence of CDH23 mutation in Japanese hearing loss patient is not clear. To assess the importance of CDH23 mutations in non-syndromic hearing loss, two-step screening was applied and clinical characteristics of the patients with CDH23 mutations were examined in this study and found 26 possible pathogenic mutations.
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Research Products
(3 results)
