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pro vyhledávání: '"Gonçalves, Thaís Fernandez"'
Autor:
Gonçalves, Thaís Fernandez, dos Santos, Jussara Mendonça, Gonçalves, Andressa Pereira, Tassone, Flora, Mendoza-Morales, Guadalupe, Ribeiro, Márcia Gonçalves, Kahn, Evelyn, Boy, Raquel, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros
Publikováno v:
Expert review of molecular diagnostics, vol 16, iss 4
ObjectiveAlmost all patients with Fragile X Syndrome (FXS) exhibit a CGG repeat expansion (full mutation) in the Fragile Mental Retardation 1 gene (FMR1). Here, the authors report five unrelated males with FXS harboring a somatic full mutation/deleti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::d06c4375c9fdaccc63f6da679084d4eb
https://escholarship.org/uc/item/2cf0g7nq
https://escholarship.org/uc/item/2cf0g7nq
Autor:
Gonçalves TF; a Department of Genetics , State University of Rio de Janeiro , Rio de Janeiro , Brazil., dos Santos JM; a Department of Genetics , State University of Rio de Janeiro , Rio de Janeiro , Brazil., Gonçalves AP; a Department of Genetics , State University of Rio de Janeiro , Rio de Janeiro , Brazil., Tassone F; b Department of Biochemistry and Molecular Medicine , UC Davis School of Medicine, University of California, Davis , Sacramento , CA , USA.; c Davis MIND Institute , Sacramento , CA , USA., Mendoza-Morales G; b Department of Biochemistry and Molecular Medicine , UC Davis School of Medicine, University of California, Davis , Sacramento , CA , USA., Ribeiro MG; d Clinical Genetics Service , IPPMG, Federal University of Rio de Janeiro , Rio de Janeiro , Brazil., Kahn E; d Clinical Genetics Service , IPPMG, Federal University of Rio de Janeiro , Rio de Janeiro , Brazil., Boy R; e Pedro Ernesto University Hospital , State University of Rio de Janeiro , Rio de Janeiro , Brazil., Pimentel MM; a Department of Genetics , State University of Rio de Janeiro , Rio de Janeiro , Brazil., Santos-Rebouças CB; a Department of Genetics , State University of Rio de Janeiro , Rio de Janeiro , Brazil.
Publikováno v:
Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2016; Vol. 16 (4), pp. 501-7. Date of Electronic Publication: 2016 Feb 09.