TY  - GEN 
AU  - De La Morena-Barrio, B.
AU  - Stephens, J.
AU  - De La Morena-Barrio, M.E.
AU  - Stefanucci, L.
AU  - Padilla, J.
AU  - Miñano, A.
AU  - Gleadall, N.
AU  - García, J.L.
AU  - López Fernández, María Fernanda
AU  - Morange, P.-E.
AU  - Puurunen, M.
AU  - Undas, A.
AU  - Vidal, F.
AU  - Raymond, F.L.
AU  - Vicente, V.
AU  - Ouwehand, W.H.
AU  - Corral, J.
AU  - Sanchis-Juan, A.
PY  - 2022
SN  - 0340-6245
UR  - http://hdl.handle.net/20.500.11940/20679
AB  - 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...
LA  - eng
TI  - Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency
DO  - 10.1055/s-0042-1749345
KW  - AS Coruña
KW  - CHUAC
KW  - INIBIC
VL  - 122
ER  -