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| Trancozo,Maira; Moraes,Marcos V.D.; Silva,Dalila A.; Soares,Jéssica A.M.; Barbirato,Clara; Almeida,Márcio G.; Santos,Lígia R.; Rebouças,Maria R. G. O.; Akel Jr,Akel N.; Sipolatti,Valentim; Nunes,Vanda R. R.; Errera,Flavia I. V.; Aguena,Meire; Passos-Bueno,Maria R.; Paula,Flavia de. |
| Abstract Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this disease. Studies that report the most frequently mutated genes in OI patients can help to improve molecular strategies for diagnosis of the disease. In order to characterize the mutation profile of OI in Brazilian patients, we analyzed 30 unrelated patients through SSCP screening, NGS gene panel, and/or Sanger sequencing for the 11 most frequently mutated genes in the database of mutations, including COL1A1, COL1A2, P3H1, CRTAP, PPIB, SERPINH1,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: NGS gene panel; COL1A1/COL1A2 genes; FKBP10 gene; P3H1 gene; IFITM5 gene. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300344 |
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