Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency
Belén de la Morena‐Barrio, Christelle Orlando, Alba Sanchis‐Juan, Juan Luis Garcı́a, José Padilla, María Eugenia de la Morena‐Barrio, Marija Puruunen, Katrien Stouffs, Rosa Cifuentes, Nina Borràs, Carlos Bravo‐Pérez, Rocío Benito, Javier Cuenca-Guardiola, Vicente Vicente, Francisco Vidal, Jesús María Hernández‐Rivas, Willem H. Ouwehand, Kristin Jochmans, Javier Corral
Topics & Concepts
BiologyGeneticsExonSegmental duplicationStructural variationGene duplicationMultiplex ligation-dependent probe amplificationGeneRetrotransposonGenomeTransposable elementGene familyRNA and protein synthesis mechanismsGenomics and Rare DiseasesRNA modifications and cancer