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Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations |
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| Authors: | Varela Patrícia Carvalho Gerson Martin Renan Paulo Pesquero João Bosco |
| Affiliation: | 1.Center for Research and Molecular Diagnostic of Genetic Diseases – Department of Biophysics, Universidade Federal de São Paulo, Rua Pedro de Toledo, 669 - 9o andar, São Paulo, 04039-032, Brazil ;2.Medical Genetics Unit, Hospital de Apoio de Brasília, Brasília, DF, Brazil ;3.McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA ; |
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| 本文献已被 SpringerLink 等数据库收录！ | |