Title: Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese
Abstract: Human MutationVolume 8, Issue 3 p. 280-281 Mutations in Brief Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese Olga Amaral, Olga Amaral Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalSearch for more papers by this authorEugénia Pinto, Eugénia Pinto Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalSearch for more papers by this authorMargarida Fortuna, Margarida Fortuna Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalSearch for more papers by this authorLucia Lacerda, Lucia Lacerda Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalSearch for more papers by this authorM.C. Sá Miranda, Corresponding Author M.C. Sá Miranda Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalDepartment of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalSearch for more papers by this author Olga Amaral, Olga Amaral Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalSearch for more papers by this authorEugénia Pinto, Eugénia Pinto Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalSearch for more papers by this authorMargarida Fortuna, Margarida Fortuna Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalSearch for more papers by this authorLucia Lacerda, Lucia Lacerda Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalSearch for more papers by this authorM.C. Sá Miranda, Corresponding Author M.C. Sá Miranda Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalDepartment of Enzymology, Instituto de Genética Médica Jacinto de Magalhäes Praça Pedro Nunes 74, 4050-Oporto, PortugalSearch for more papers by this author First published: 1996 https://doi.org/10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-ZCitations: 26AboutPDF 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 Amaral O, Fortuna AM, Lacerda L, Pinto R, Sa Miranda MC (1994) Molecular characterisation of type 1 Gaucher disease families and patients: Intrafamilial heterogeneity at the clinical level. J Med Genet 31: 401– 404. Beutler E, Grabowski GA (1995) Glucosylceramide Lipidoses: Gaucher disease. In: CR Scriver, et al., (eds). The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, pp 2641– 2670. Beutler E, Gelbart T, Kuhl W, Zimran A, West C (1992a) Mutations in Jewish pacients with Gaucher disease. Blood 79: 1662– 1666. Beutler E, West C, Gelbart T (1992b) Polymorphisms in the human glucocerebrosidase gene. Genomics 12: 795– 800. Beutler E, Gelbart T, West C (1993) Identification of six new Gaucher disease mutations. Genomics 15: 203– 205. Cormand B, Vilageliu L, Burguera J, Balcells S, Gonzalez-Duarte R, Grinberg D, Chabás A (1995) Gaucher Disease in Spanish patients: Analysis of eight mutations. Hum Mutat 5: 303– 309. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E (1989) The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 4: 87– 96. Horowitz M, Zimran A (1994) Mutations causing Gaucher disease. Hum Mutat 3: 1– 11. Laubscher KH, Glew RH, Lee RE, Okinaka RT (1994) Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucocerebrosidase gene. Hum Mutat 3: 411– 415. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) A rapid and sensitive detection of point mutations and genetic polymorphisms using polymerase chain reaction. Genomics 5: 874– 879. Sa Miranda MC, Aerts J, Pinto R, Fontes A, Lacerda LW, van Welley S, Barranger J, Tager JM (1990) Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients. Clin Genet 38: 218– 227. Citing Literature Volume8, Issue31996Pages 280-281 ReferencesRelatedInformation