Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1.

Abstract

Human MutationVolume 11, Issue S1 p. S47-S49 Mutation in BriefFree Access Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1 Takahiko Horiuchi, Corresponding Author Takahiko Horiuchi First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka 812, JapanFirst Dept. of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka 812, Japan. Fax: 81-92-632-1767Search for more papers by this authorNobuaki Hatta, Nobuaki Hatta First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this authorIchiro Watanabe, Ichiro Watanabe First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this authorYuzuru Kobayashi, Yuzuru Kobayashi First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this authorMargaret R. Wallace, Margaret R. Wallace Division of Genetics, Department of Pediatrics, University of Florida Health Science Center, Gainesville, Florida 32610-0296Search for more papers by this authorYuji Shirakata, Yuji Shirakata First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this authorHisashi Ohtsuka, Hisashi Ohtsuka First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this authorShigeru Fujita, Shigeru Fujita First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this author Takahiko Horiuchi, Corresponding Author Takahiko Horiuchi First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka 812, JapanFirst Dept. of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka 812, Japan. Fax: 81-92-632-1767Search for more papers by this authorNobuaki Hatta, Nobuaki Hatta First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this authorIchiro Watanabe, Ichiro Watanabe First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this authorYuzuru Kobayashi, Yuzuru Kobayashi First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this authorMargaret R. Wallace, Margaret R. Wallace Division of Genetics, Department of Pediatrics, University of Florida Health Science Center, Gainesville, Florida 32610-0296Search for more papers by this authorYuji Shirakata, Yuji Shirakata First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this authorHisashi Ohtsuka, Hisashi Ohtsuka First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this authorShigeru Fujita, Shigeru Fujita First Department of Internal Medicine and Department of Dermatology, School of Medicine, Ehime University, Ehime 791-02, JapanSearch for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.1380110116AboutPDF 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 onFacebookTwitterLinked InRedditWechat Volume11, IssueS1Supplement: Human Mutation1998Pages S47-S49 ReferencesRelatedInformation