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Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.

Carlos Bravo-PerezMaría Eugenia de la Morena-BarrioA PalomoL EntrenaBelén De la Morena-BarrioJ PadillaA MiñanoE NavarroR CifuentesJ CorralV Vicente
Published in: British journal of haematology (2020)
Keyphrases
  • copy number
  • early onset
  • gene expression
  • dna methylation
  • pregnant women