難聴の個別化医療を目指して : Toward Personalized Medicine of Deafness
Author:
Publisher
Oto-Rhino-Laryngological Society of Japan, Inc.
Subject
Otorhinolaryngology
Link
https://www.jstage.jst.go.jp/article/jibiinkoka/124/2/124_135/_pdf
Reference43 articles.
1. 1) Van Camp G, Smith RJH: Hereditary Hearing Loss. https: //hereditaryhearingloss.org (update: 2020.4.20).
2. 2) Ohtsuka A, Yuge I, Kimura S, et al: GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 2003; 112: 329-333.
3. 3) Tsukamoto K, Suzuki H, Harada D, et al: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet 2003; 11: 916-922.
4. 4) Wagatsuma M, Kitoh R, Suzuki H, et al: Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. Clin Genet 2007; 72: 339-344.
5. 5) Usami S, Wagatsuma M, Fukuoka H, et al: The responsible genes in Japanese deafness patients and clinical application using Invader assay. Acta Otolaryngol 2008; 128: 446-454.
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