Navegação Ciências Biológicas por Assunto "Mutação genética"
Resultados 1-3 de 3
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Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”
(2018) [Artigo de periódico]In this comment, we highlight that the IDUA pathogenic variants 704ins5 and c.613_617dupTGCTC are the same, but have different names depending on the nomenclature guideline used. Therefore, the frequency of this variant ... -
Drosophila relics hobo and hobo-MITEs transposons as raw material for new regulatory networks
(2018) [Artigo de periódico]Hypermutable strains of Drosophila simulans have been studied for 20 years. Several mutants were isolated and characterized, some of which had phenotypes associated with alteration in development; for example, showing ... -
Estimação da probabilidade de mutação germinativa através da história familiar
(2011) [Artigo de periódico]Introdução: Cerca de 10% de todos os tumores são primariamente causados por mutações germinativas de alta penetrância em genes de predisposição ao câncer. Indivíduos portadores dessas mutações têm risco significativamente ...