Browsing by Subject Frameshift Mutation

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Showing results 1 to 8 of 8
PreviewIssue DateTitleAuthor(s)AdvisorType
2015Nphs2 Mutations Account For Only 15% Of Nephrotic Syndrome Cases.Guaragna, Mara Sanches; Lutaif, Anna Cristina G B; Piveta, Cristiane S C; Souza, Marcela L; de Souza, Suéllen R; Henriques, Taciane B; Maciel-Guerra, Andréa T; Belangero, Vera M S; Guerra-Junior, Gil; De Mello, Maricilda P-Artigo de periódico
2005Rhnull Syndrome: Identification Of A Novel Mutation In Rhce.Rosa, K A; Reid, M E; Lomas-Francis, C; Powell, V I; Costa, F F; Stinghen, S T; Watanabe, A M; Carboni, E K; Baldon, J P; Jucksch, M M F; Castilho, L-Artigo de periódico
2002Beta-spectrin São Pauloii, A Novel Frameshift Mutation Of The Beta-spectrin Gene Associated With Hereditary Spherocytosis And Instability Of The Mutant Mrna.Bassères, D S; Tavares, A C; Costa, F F; Saad, S T O-Artigo de periódico
2001Detection Of Somatic Mutations Of The Pig-a Gene In Brazilian Patients With Paroxysmal Nocturnal Hemoglobinuria.Franco De Carvalho, R; Arruda, V R; Saad, S T; Costa, F F-Artigo de periódico
2006[report Of A New Mutation In Cybb Gene In Two Patients With X Linked Chronic Granulomatous Disease].Agudelo-Flórez, Piedad; Navarro, Sara; Luttges, Pamela; López, Juan Alvaro; Norambuena, Ximena; Navarrete S, Carmen Luz; Quezada, Arnoldo; Spencer, Michael; Condino-Neto, Antonio; Cornejo de, Mónica-Artigo de periódico
1999New Frameshift Mutation In The 5alpha-reductase Type 2 Gene In A Brazilian Patient With 5alpha-reductase Deficiency.Ferraz, L F; Mathias Baptista, M T; Maciel-Guerra, A T; Júnior, G G; Hackel, C-Artigo de periódico
2001H28+c Insertion In The Cyp21 Gene: A Novel Frameshift Mutation In A Brazilian Patient With The Classical Form Of 21-hydroxylase Deficiency.Lau, I F; Soardi, F C; Lemos-Marini, S H; Guerra Jr, G; Baptista, M T; De Mello, M P-Artigo de periódico
2000Molecular Heterogeneity Of The A3 Subgroup.Barjas-Castro, M L; Carvalho, M H; Locatelli, M F; Bordin, S; Saad, S T-Artigo de periódico