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Material Type: Artigo
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Photochemoprevention of ultraviolet B signaling and photocarcinogenesisAfaq, F ; Adhami, V M ; Mukhtar, HMutation Research-Fundamental and Molecular Mechanisms of Mutagenesis, 2005-04, Vol.571 (1-2), p.153-173 [Periódico revisado por pares]Texto completo disponível |
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2 |
Material Type: Artigo
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A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathyJackson, Christopher B ; Hahn, Dagmar ; Schröter, Barbara ; Richter, Uwe ; Battersby, Brendan J ; Schmitt-Mechelke, Thomas ; Marttinen, Paula ; Nuoffer, Jean-Marc ; Schaller, AndréEuropean journal of medical genetics, 2017-06, Vol.60 (6), p.345-351 [Periódico revisado por pares]Netherlands: Elsevier Masson SASTexto completo disponível |
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3 |
Material Type: Artigo
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An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogsFyfe, John C. ; Hemker, Shelby L. ; Venta, Patrick J. ; Fitzgerald, Caitlin A. ; Outerbridge, Catherine A. ; Myers, Sherry L. ; Giger, UrsMolecular genetics and metabolism, 2013-08, Vol.109 (4), p.390-396 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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4 |
Material Type: Artigo
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inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cellsGasparre, Giuseppe ; Iommarini, Luisa ; Porcelli, Anna Maria ; Lang, Martin ; Ferri, Gian Gaetano ; Kurelac, Ivana ; Zuntini, Roberta ; Mariani, Elisa ; Pennisi, Lucia Fiammetta ; Pasquini, Ernesto ; Pasquinelli, Gianandrea ; Ghelli, Anna ; Bonora, Elena ; Ceccarelli, Claudio ; Rugolo, Michela ; Salfi, Nunzio ; Romeo, Giovanni ; Carelli, ValerioHuman mutation, 2009-03, Vol.30 (3), p.391-396 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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5 |
Material Type: Artigo
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Heterologous mitochondrial DNA recombination in human cellsD'Aurelio, Marilena ; Gajewski, Carl D. ; Lin, Michael T. ; Mauck, William M. ; Shao, Leon Z. ; Lenaz, Giorgio ; Moraes, Carlos T. ; Manfredi, GiovanniHuman molecular genetics, 2004-12, Vol.13 (24), p.3171-3179 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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6 |
Material Type: Artigo
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Dendritic Cell-Based Tumor Vaccines and Antigen Presentation AttenuatorsEvel-Kabler, Kevin ; Chen, Si-YiMolecular therapy, 2006-05, Vol.13 (5), p.850-858 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Mitochondrial DNA Variation in Nicobarese IslandersPRASAD, B.V. RAVI ; RICKER, CHRIS E. ; WATKINS, W. SCOTT ; ATKINS, W. SCOTT ; DIXON, MARY E. ; RAO, BASKARA B. ; NAIDU, J. MASTAN ; JORDE, LYNN B. ; BAMSHAD, MICHAELHuman biology, 2001-10, Vol.73 (5), p.715-725 [Periódico revisado por pares]United States: Wayne State University PressTexto completo disponível |
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8 |
Material Type: Artigo
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Mitochondrial mutagenesis in human cells and tissuesMarcelino, Luisa A ; Thilly, William GMutation research. DNA repair, 1999-07, Vol.434 (3), p.177-203Elsevier B.VTexto completo disponível |
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9 |
Material Type: Artigo
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Fra(2) (q13) and inv(9) (pllq12) in autism: Causal relationship?Jayakar, Parul ; Chudley, Albert E. ; Ray, Mano ; Evans, Jane A. ; Perlov, Jack ; Wand, Rox ; Opitz, John M. ; Reynolds, James F.American journal of medical genetics, 1986-01, Vol.23 (1-2), p.381-392New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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10 |
Material Type: Artigo
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2LEMMERS, Richard J. L. F ; TAWIL, Rabi ; KROM, Yvonne D ; KLOOSTER, Rinse ; YU SUN ; DEN DUNNEN, Johan T ; HELMER, Quinta ; DONLIN-SMITH, Colleen M ; PADBERG, George W ; VAN ENGELEN, Baziel G. M ; DE GREEF, Jessica C ; AARTSMA-RUS, Annemieke M ; PETEK, Lisa M ; FRANTS, Rune R ; DE VISSER, Marianne ; DESNUELLE, Claude ; SACCONI, Sabrina ; FILIPPOVA, Galina N ; BAKKER, Bert ; BAMSHAD, Michael J ; TAPSCOTT, Stephen J ; MILLER, Daniel G ; VAN DER MAAREL, Silvere M ; BALOG, Judit ; BLOCK, Gregory J ; SANTEN, Gijs W. E ; AMELL, Amanda M ; VAN DER VLIET, Patrick J ; ALMOMANI, Rowida ; STRAASHEIJM, Kirsten RNature genetics, 2012-12, Vol.44 (12), p.1370-1374 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |