2 documents found, page 1 of 1
Xeroderma pigmentosum: Low prevalence of germline XPA mutations in a brazilian ...
Santiago, Karina Miranda; De Nóbrega, Amanda França; Rocha, Rafael Malagoli; Rogatto, Silvia Regina; Achatz, Maria IsabelMade available in DSpace on 2022-04-29T08:45:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-04-01; Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No Brazi...
Germline mutation in mus81 resulting in impaired protein stability is associate...
Pinheiro, Maisa [UNESP]; Lupinacci, Fernanda Cristina Sulla; Santiago, Karina Miranda; Drigo, Sandra Aparecida [UNESP]; Marchi, Fabio AlbuquerqueMade available in DSpace on 2020-12-12T02:08:56Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-05-01; Syddansk Universitet; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Multiple primary thyroid cancer (TC) and breast cancer (BC) are commonly diagnos...