Title: New mutation (S298P) in a patient with glycogen storage disease type IA
Abstract: Human MutationVolume 11, Issue S1 p. S329-S329 Mutation NoteFree Access New mutation (S298P) in a patient with glycogen storage disease type IA Marina Stroppiano, Marina Stroppiano Laboratorio Medicina III, Istituto G. Gaslini, Genova, ItalySearch for more papers by this authorRaffaella Mazzotti, Raffaella Mazzotti Laboratorio Medicina III, Istituto G. Gaslini, Genova, ItalySearch for more papers by this authorStefano Regis, Stefano Regis Laboratorio Medicina III, Istituto G. Gaslini, Genova, ItalySearch for more papers by this authorRosanna Gatti, Corresponding Author Rosanna Gatti Laboratorio Medicina III, Istituto G. Gaslini, Genova, ItalyIII Divisione Pediatria, Istituto G. Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy; Fax: 39-10-3776590Search for more papers by this author Marina Stroppiano, Marina Stroppiano Laboratorio Medicina III, Istituto G. Gaslini, Genova, ItalySearch for more papers by this authorRaffaella Mazzotti, Raffaella Mazzotti Laboratorio Medicina III, Istituto G. Gaslini, Genova, ItalySearch for more papers by this authorStefano Regis, Stefano Regis Laboratorio Medicina III, Istituto G. Gaslini, Genova, ItalySearch for more papers by this authorRosanna Gatti, Corresponding Author Rosanna Gatti Laboratorio Medicina III, Istituto G. Gaslini, Genova, ItalyIII Divisione Pediatria, Istituto G. Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy; Fax: 39-10-3776590Search for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.13801101109Citations: 1AboutPDF 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 No abstract is available for this article. References Hwu W-L, Chuang S-C, Tsai L-P, Chang M-H, Chuang S-M, Wang T-R (1995) Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia. Hum Mol Genet 4: 1095– 1096. Kajihara S, Matsuhashi S, Yamamoto K, Kido K, Tsuji K, Tanae A, Fujiyama S, Itoh T, Tanigawa K, Uchida M, Setoguchi Y, Motomura M, Mizuta T, Sakai T (1995) Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type Ia in Japan. Am J Hum Genet 57: 549– 555. Lei K-J, Shelly LL, Pan C-J, Sidbury JB, Chou JY (1993) Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type Ia. Science 262: 580– 583. Lei K-J, Chen Y-T, Chen H, Wong L-JC, Liu J-L, McConkie-Rosell A, Van Hove JLK, Ou HC-Y, Yeh NJ, Pan LY, Chou JY (1995) Genetic basis of glycogen storage disease type Ia: Prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet 57: 766– 771. Parvari R, Moses S, Hershkovitz E, Carmi R, Bashan N (1995) Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type I a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. J Inher Metab Dis 18: 21– 27. Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S329-S329 ReferencesRelatedInformation