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J-GLOBAL ID：201002251464784379   整理番号：10A1002310

光受容体分化の推定上の調節因子ZNF513の突然変異は常染色体劣性網膜色素変性症を引き起こす

A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa

著者 (14件)： LI Lin (Ophthalmic Genetics and Visual Function Branch, National Eye Inst., National Institutes of Health, Bethesda, MD ...) ,  LI Lin (State Key Lab. of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen Univ., 54 Xianlie Road, Guangzhou 510060, CHN) ,  NAKAYA Naoki (Section of Molecular Mechanisms of Glaucoma, Lab. of Molecular and Developmental Biology, National Eye Inst. ...) ,  CHAVALI Venkata R.M. (Dep. of Ophthalmology, Univ. of California San Diego, Jacobs Retina Center, #206, La Jolla, CA 92037, USA) ,  MA Zhiwei (Ophthalmic Genetics and Visual Function Branch, National Eye Inst., National Institutes of Health, Bethesda, MD ...) ,  JIAO Xiaodong (Ophthalmic Genetics and Visual Function Branch, National Eye Inst., National Institutes of Health, Bethesda, MD ...) ,  SIEVING Paul A. (National Eye Inst., National Institutes of Health, Bethesda, MD 20892, USA) ,  RIAZUDDIN Sheikh (National Centre of Excellence in Molecular Biology, Univ. of the Punjab, Lahore-53700, PAK) ,  RIAZUDDIN Sheikh (Allama Iqbal Medical Coll., Lahore-54550, PAK) ,  TOMAREV Stanislav I. (Section of Molecular Mechanisms of Glaucoma, Lab. of Molecular and Developmental Biology, National Eye Inst. ...) ,  AYYAGARI Radha (Dep. of Ophthalmology, Univ. of California San Diego, Jacobs Retina Center, #206, La Jolla, CA 92037, USA) ,  RIAZUDDIN S. Amer (National Centre of Excellence in Molecular Biology, Univ. of the Punjab, Lahore-53700, PAK) ,  RIAZUDDIN S. Amer (The Wilmer Eye Inst., Johns Hopkins Univ. School of Medicine, Baltimore, MD 21287, USA) ,  HEJTMANCIK J. Fielding (Ophthalmic Genetics and Visual Function Branch, National Eye Inst., National Institutes of Health, Bethesda, MD ...)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 87  号： 3  ページ： 400-409  発行年： 2010年09月10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)： 光受容体 ,  分化 ,  推定 ,  調節因子 ,  突然変異 ,  常染色体 ,  劣性 ,  網膜色素変性症