Abstract

Human MutationVolume 9, Issue 5 p. 383-387 Mutation Update Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis Peiyi Y. Hu, Peiyi Y. Hu Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, Missouri; Fax: 314776-1183Search for more papers by this authorE. Justin Lim, E. Justin Lim Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, Missouri; Fax: 314776-1183Search for more papers by this authorJessica Ciccolella, Jessica Ciccolella Department of Pediatrics, University of Reggio Calabria, Catanzaro, ItalySearch for more papers by this authorPietro Strisciuglio, Pietro Strisciuglio Department of Pediatrics, University of Reggio Calabria, Catanzaro, ItalySearch for more papers by this authorWilliam S. Sly, Corresponding Author William S. Sly Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, Missouri; Fax: 314776-1183Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, Missouri; Fax: 314776-1183Search for more papers by this author Peiyi Y. Hu, Peiyi Y. Hu Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, Missouri; Fax: 314776-1183Search for more papers by this authorE. Justin Lim, E. Justin Lim Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, Missouri; Fax: 314776-1183Search for more papers by this authorJessica Ciccolella, Jessica Ciccolella Department of Pediatrics, University of Reggio Calabria, Catanzaro, ItalySearch for more papers by this authorPietro Strisciuglio, Pietro Strisciuglio Department of Pediatrics, University of Reggio Calabria, Catanzaro, ItalySearch for more papers by this authorWilliam S. Sly, Corresponding Author William S. Sly Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, Missouri; Fax: 314776-1183Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, St. Louis, Missouri; Fax: 314776-1183Search for more papers by this author First published: 07 January 1999 https://doi.org/10.1002/(SICI)1098-1004(1997)9:5<383::AID-HUMU1>3.0.CO;2-5Citations: 21AboutPDF 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 Citing Literature Volume9, Issue51997Pages 383-387 RelatedInformation

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