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J-GLOBAL ID：201002274037106750   整理番号：10A0190746

同型接合性の地図化は常染色体劣性非症候性聴覚障害の原因であるGRXCR1の突然変異を明らかにする

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

著者 (21件)： SCHRADERS Margit (Dep. of Otorhinolaryngology, Head and Neck Surgery, Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. ...) ,  SCHRADERS Margit (Nijmegen Centre for Molecular Life Sciences, Radboud Univ. Nijmegen, 6525GA Nijmegen, NLD) ,  LEE Kwanghyuk (Dep. of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  OOSTRIK Jaap (Dep. of Otorhinolaryngology, Head and Neck Surgery, Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. ...) ,  OOSTRIK Jaap (Nijmegen Centre for Molecular Life Sciences, Radboud Univ. Nijmegen, 6525GA Nijmegen, NLD) ,  HUYGEN Patrick L.M. (Dep. of Otorhinolaryngology, Head and Neck Surgery, Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. ...) ,  ALI Ghazanfar (Dep. of Biochemistry, Fac. of Biological Sciences, Quaid-I-Azam Univ., 45320 Islamabad, PAK) ,  HOEFSLOOT Lies H. (Dep. of Human Genetics, Radboud Univ. Nijmegen Medical Centre, Radboud Univ. Nijmegen, 6525GA Nijmegen, NLD) ,  VELTMAN Joris A. (Dep. of Human Genetics, Radboud Univ. Nijmegen Medical Centre, Radboud Univ. Nijmegen, 6525GA Nijmegen, NLD) ,  VELTMAN Joris A. (Nijmegen Centre for Molecular Life Sciences, Radboud Univ. Nijmegen, 6525GA Nijmegen, NLD) ,  CREMERS Frans P.M. (Dep. of Human Genetics, Radboud Univ. Nijmegen Medical Centre, Radboud Univ. Nijmegen, 6525GA Nijmegen, NLD) ,  CREMERS Frans P.M. (Nijmegen Centre for Molecular Life Sciences, Radboud Univ. Nijmegen, 6525GA Nijmegen, NLD) ,  BASIT Sulman (Dep. of Biochemistry, Fac. of Biological Sciences, Quaid-I-Azam Univ., 45320 Islamabad, PAK) ,  ANSAR Muhammad (Dep. of Biochemistry, Fac. of Biological Sciences, Quaid-I-Azam Univ., 45320 Islamabad, PAK) ,  CREMERS Cor W.R.J. (Dep. of Otorhinolaryngology, Head and Neck Surgery, Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. ...) ,  KUNST Henricus P.M. (Dep. of Otorhinolaryngology, Head and Neck Surgery, Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. ...) ,  AHMAD Wasim (Dep. of Biochemistry, Fac. of Biological Sciences, Quaid-I-Azam Univ., 45320 Islamabad, PAK) ,  ADMIRAAL Ronald J.C. (Dep. of Otorhinolaryngology, Head and Neck Surgery, Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. ...) ,  LEAL Suzanne M. (Dep. of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  KREMER Hannie (Dep. of Otorhinolaryngology, Head and Neck Surgery, Donders Inst. for Brain, Cognition and Behaviour, Radboud Univ. ...) ,  KREMER Hannie (Nijmegen Centre for Molecular Life Sciences, Radboud Univ. Nijmegen, 6525GA Nijmegen, NLD)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 86  号： 2  ページ： 138-147  発行年： 2010年02月12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 (8件)： 同型接合性 ,  地図 ,  常染色体 ,  劣性 ,  症候 ,  聴覚障害 ,  原因 ,  突然変異