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J-GLOBAL ID：201302234319390540   整理番号：13A0010929

内耳蛋白質のオトゲリン様をコードするOTOGLにおける突然変異は中程度の感音難聴を引き起こす

Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

著者 (40件)： YARIZ Kemal O. (John P. Hussman Inst. for Human Genomics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  YARIZ Kemal O. (Dr. John T. Macdonald Dep. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  DUMAN Duygu (Div. of Pediatric Genetics, Ankara Univ. School of Medicine, 06100 Ankara, TUR) ,  SECO Celia Zazo (Dep. of Otorhinolaryngology, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  SECO Celia Zazo (Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  SECO Celia Zazo (Nijmegen Centre for Molecular Life Sciences, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  DALLMAN Julia (Dep. of Biology, Univ. of Miami, Miami, FL 33146, USA) ,  HUANG Mingqian (Eaton-Peabody Lab., Dep. of Otology and Laryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School ...) ,  PETERS Theo A. (Dep. of Otorhinolaryngology, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  PETERS Theo A. (Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  PETERS Theo A. (Nijmegen Centre for Molecular Life Sciences, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  SIRMACI Asli (John P. Hussman Inst. for Human Genomics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  SIRMACI Asli (Dr. John T. Macdonald Dep. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  LU Na (Eaton-Peabody Lab., Dep. of Otology and Laryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School ...) ,  LU Na (Dep. of Otology & Skull Base Surgery, Affiliated Eye and ENT Hospital of Fudan Univ., 83 Fenyang Road, Shanghai ...) ,  SCHRADERS Margit (Dep. of Otorhinolaryngology, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  SCHRADERS Margit (Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  SCHRADERS Margit (Nijmegen Centre for Molecular Life Sciences, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  SKROMNE Isaac (Dep. of Biology, Univ. of Miami, Miami, FL 33146, USA) ,  OOSTRIK Jaap (Dep. of Otorhinolaryngology, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  OOSTRIK Jaap (Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  OOSTRIK Jaap (Nijmegen Centre for Molecular Life Sciences, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  DIAZ-HORTA Oscar (John P. Hussman Inst. for Human Genomics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  DIAZ-HORTA Oscar (Dr. John T. Macdonald Dep. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  YOUNG Juan I. (John P. Hussman Inst. for Human Genomics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  YOUNG Juan I. (Dr. John T. Macdonald Dep. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  TOKGOZ-YILMAZ Suna (Div. of Pediatric Genetics, Ankara Univ. School of Medicine, 06100 Ankara, TUR) ,  KONUKSEVEN Ozlem (Hearing and Balance Disorders Diagnosis and Rehabilitation Center, Ataturk Res. and Training Hospital, 06800 Ankara, TUR) ,  SHAHIN Hashem (Dep. of Life Sciences, Bethlehem Univ., Bethlehem, Palestine) ,  HETTERSCHIJT Lisette (Nijmegen Centre for Molecular Life Sciences, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  HETTERSCHIJT Lisette (Dep. of Human Genetics, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  KANAAN Moien (Dep. of Life Sciences, Bethlehem Univ., Bethlehem, Palestine) ,  OONK Anne M.M. (Dep. of Otorhinolaryngology, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  OONK Anne M.M. (Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. Nijmegen Medical Centre, 6500 HB Nijmegen, NLD) ,  EDWARDS Yvonne J.K. (John P. Hussman Inst. for Human Genomics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  EDWARDS Yvonne J.K. (Dr. John T. Macdonald Dep. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  LI Huawei (Dep. of Otology & Skull Base Surgery, Affiliated Eye and ENT Hospital of Fudan Univ., 83 Fenyang Road, Shanghai ...) ,  ATALAY Semra (Div. of Pediatric Genetics, Ankara Univ. School of Medicine, 06100 Ankara, TUR) ,  BLANTON Susan (John P. Hussman Inst. for Human Genomics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA) ,  BLANTON Susan (Dr. John T. Macdonald Dep. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL 33136, USA)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 91  号： 5  ページ： 872-882  発行年： 2012年11月02日 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
発行国： オランダ (NLD)  言語： 英語 (EN)

タイトルに関連する用語 (4件)： 内耳 ,  蛋白質 ,  突然変異 ,  感音難聴