Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

The identification of inherited antithrombin deficiency (ATD) is critical to prevent potentially life-threatening thrombotic events. Causal variants in SERPINC1 are identified for up to 70% of cases, the majority being single-nucleotide variants and indels. The detection and characterization of stru...

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Detalles Bibliográficos
Autores principales: de la Morena-Barrio, Belén, Stephens, Jonathan, de la Morena-Barrio, María Eugenia, Stefanucci, Luca, Padilla, José, Miñano, Antonia, Gleadall, Nicholas, García, Juan Luis, López-Fernández, María Fernanda, Morange, Pierre-Emmanuel, Puurunen, Marja, Undas, Anetta, Vidal, Francisco, Raymond, Frances Lucy, Vicente, Vicente, Ouwehand, Willem H., Corral, Javier, Sanchis-Juan, Alba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2022
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393088/
https://www.ncbi.nlm.nih.gov/pubmed/35764313
http://dx.doi.org/10.1055/s-0042-1749345

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393088/
https://www.ncbi.nlm.nih.gov/pubmed/35764313
http://dx.doi.org/10.1055/s-0042-1749345

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