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Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

1997; Wiley; Volume: 9; Issue: 5 Linguagem: Inglês

10.1002/(sici)1098-1004(1997)9

1098-1004

Peiyi Hu, Erna Lim, Jessica Ciccolella, Pietro Strisciuglio, William S. Sly,

Glycogen Storage Diseases and Myoclonus

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 3.0.CO;2-5Citations: 22AboutPDF 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 References Barnard GF, Puder M, Begum NA, Chen LB (1994) PCR product sequencing with [α-33P] and [α-32P]dATP. BioTechniques 16: 572– 573. 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Hum Mutat 5: 348– 350. Soda H, Yukizane S, Yoshida I, Koga Y, Aramaki S, Kato H (1996) A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement. Hum Genet 97: 435– 437. Strisciuglio P, Sartorio R, Pecoraro C, Lotito F, Sly WS (1991) Variable clinical presentation of carbonic anhydrase deficiency: Evidence for heterogeneity? Eur J Pediatr 149: 377– 340. Strisciuglio P, Hu PY, Lim EJ, Ciccolella J, Sly WS (1997) Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family. J Pediatrics, submitted. Sundaram V, Rumbolo P, Grubb J, Strisciuglio P, Sly WS (1986) Carbonic anhydrase II deficiency: Diagnosis and carrier detection using differential enzyme inhibition and inactivation. Am J Hum Genet 38: 125– 136. Citing Literature Volume9, Issue51997Pages 383-387 ReferencesRelatedInformation