Art

J-GLOBAL ID：201702266658583548   Reference number：17A1235061

WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss

両側性低周波感音性難聴患者におけるWFS1およびGJB2変異【Powered by NICT】

Author (13)： Kasakura-Kimura Natsuko (Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Kasakura-Kimura Natsuko (Department of Otolaryngology, School of Medicine, Kyorin University, Tokyo, Japan) ,  Masuda Masatsugu (Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Masuda Masatsugu (Department of Otolaryngology, School of Medicine, Kyorin University, Tokyo, Japan) ,  Mutai Hideki (Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Masuda Sawako (Department of Otolaryngology, National Mie Hospital, Mie, Japan) ,  Morimoto Noriko (Division of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan) ,  Ogahara Noboru (Department of Otolaryngology, Kanagawa Children’s Medical Center, Kanagawa, Japan) ,  Misawa Hayato (Department of Otolaryngology, National Hospital Organization Nagoya Medical Center, Aichi, Japan) ,  Sakamoto Hirokazu (Department of Otolaryngology, Hyogo Prefectural Kobe Children’s Hospital, Hyogo, Japan) ,  Saito Koichiro (Department of Otolaryngology, School of Medicine, Kyorin University, Tokyo, Japan) ,  Matsunaga Tatsuo (Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Matsunaga Tatsuo (Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan)
Material： Laryngoscope
Volume： 127  Issue： 9  Page： E324-E329  Publication year： 2017 
JST Material Number： E0766D  ISSN： 0023-852X  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： OBJECTIVE: Evaluating the prev...

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Thesaurus term： hospital ,  heredity ,  *variation(biology) ,  heterojunction ,  autosome ,  *sensorineural hearing loss ,  genetic variation ,  allele ,  *patient ,  morbidity
Semi thesaurus term： 遺伝子検査 ,  遺伝子解析 ,  日本人 ,  ミトコンドリアDNA ,  遺伝的変異 , 【Automatic Indexing@JST】

Author keywords (6)： de novo mutation ,  DFNA6/14/38 ,  GJB2 ,  low-frequency sensorineural hearing loss ,  nonsyndromic hearing loss ,  WFS1

JST classification (5)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J) ,  Structure and chemistry of genes  (EC02020U) ,  Nervous system diseases  (GN03000O) ,  Diseases of ear,nose,pharynx and larynx  (GQ03000X)

Terms in the title (5)： 側性 ,  低周波 ,  感音性難聴 ,  患者 ,  変異