Osteogenesis imperfecta in Brazilian patients

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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Genet Mol Biol
Päätekijät: 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, Akel N., Sipolatti, Valentim, Nunes, Vanda R. R., Errera, Flavia I. V., Aguena, Meire, Passos-Bueno, Maria R., de Paula, Flavia
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Sociedade Brasileira de Genética 2019
Aiheet:
Human and Medical Genetics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6726155/
https://ncbi.nlm.nih.gov/pubmed/31429852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2018-0043
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