Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

BACKGROUND: Thoracic aortic aneurysms and dissections (TAAD) are silent but possibly lethal condition with up to 40 % of cases being hereditary. Genetic background is heterogeneous. Recently next-generation sequencing enabled efficient and cost-effective examination of gene panels. Aim of the study...

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Detalles Bibliográficos
Autores principales: Poninska, J. K., Bilinska, Z. T., Franaszczyk, M., Michalak, E., Rydzanicz, M., Szpakowski, E., Pollak, A., Milanowska, B., Truszkowska, G., Chmielewski, P., Sioma, A., Janaszek-Sitkowska, H., Klisiewicz, A., Michalowska, I., Makowiecka-Ciesla, M., Kolsut, P., Stawinski, P., Foss-Nieradko, B., Szperl, M., Grzybowski, J., Hoffman, P., Januszewicz, A., Kusmierczyk, M., Ploski, R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855821/
https://www.ncbi.nlm.nih.gov/pubmed/27146836
http://dx.doi.org/10.1186/s12967-016-0870-4

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