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Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia

无虹膜 6号乘客 眼科 无义突变 医学 验光服务 历史 突变 遗传学 生物 基因 错义突变 转录因子
作者
Larry Baum,Chi Pui Pang,Dorothy S.P. Fan,Priscilla M.K. Poon,Yuk Fai Leung,John K.H. Chua,Dennis S.C. Lam
出处
期刊:Human Mutation [Wiley]
卷期号:14 (3): 272-273 被引量:20
标识
DOI:10.1002/(sici)1098-1004(1999)14:3<272::aid-humu21>3.0.co;2-v
摘要

Human MutationVolume 14, Issue 3 p. 272-273 Mutation and Polymorphism Report Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia † Larry Baum, Larry Baum Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this authorC.P. Pang, C.P. Pang Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this authorDorothy S.P. Fan, Dorothy S.P. Fan Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this authorPriscilla M.K. Poon, Priscilla M.K. Poon Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, Hong KongSearch for more papers by this authorY.F. Leung, Y.F. Leung Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this authorJohn K.H. Chua, John K.H. Chua Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this authorDennis S.C. Lam, Dennis S.C. Lam Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this author Larry Baum, Larry Baum Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this authorC.P. Pang, C.P. Pang Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this authorDorothy S.P. Fan, Dorothy S.P. Fan Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this authorPriscilla M.K. Poon, Priscilla M.K. Poon Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, Hong KongSearch for more papers by this authorY.F. Leung, Y.F. Leung Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this authorJohn K.H. Chua, John K.H. Chua Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this authorDennis S.C. Lam, Dennis S.C. Lam Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St., Kowloon City, Hong KongSearch for more papers by this author First published: 02 September 1999 https://doi.org/10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU21>3.0.CO;2-VCitations: 11 † Communicated by: Mark H. Paalman ‡ Online Citation: Human Mutation, Mutation and Polymorphism Report #72 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr72.pdf § Acknowledgments: This work was supported in part by the Mr. W.K. Lee Eye Foundation, Hong Kong and a direct UGC grant, Medical Panel, the Chinese University of Hong Kong. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article.Citing Literature Volume14, Issue31999Pages 272-273 RelatedInformation
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