A Splice-Site Mutation in a Retina-Specific Exon of <em>BBS8</em> Causes Nonsyndromic Retinitis Pigmentosa期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

*A Splice-Site Mutation in a Retina-Specific Exon of BBS8* Causes Nonsyndromic Retinitis Pigmentosa**

Authors:	S. Amer Riazuddin Muhammad Iqbal Tomohiro Masuda Sara Bowne Naushin H. Waseem Stephen P. Daiger Shaheen N. Khan J. Fielding Hejtmancik Donald J. Zack

Affiliation:	¹ McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA ² The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA ³ National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan ⁴ Institute for Genomic Medicine and Shiley Eye Center, University of California, San Diego, La Jolla, CA 92093, USA ⁵ Human Genetics Center, The University of Texas Health Science Center, Houston, TX 77030, USA ⁶ Department of Genetics, University College London Institute of Ophthalmology, London EC1V 9EL, UK ⁷ Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda MD 20892, USA ⁸ Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA

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