title: Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency.
authors: Sonia
authors: S
authors: Águila
authors: Irene
authors: I
authors: Martínez-Martínez
authors: Miriam
authors: M
authors: Collado
authors: Pilar
authors: P
authors: Llamas
authors: Ana I
authors: AI
authors: Antón
authors: Consuelo
authors: C
authors: Martínez-Redondo
authors: José
authors: J
authors: Padilla
authors: Antonia
authors: A
authors: Miñano
authors: María E
authors: ME
authors: de la Morena-Barrio
authors: Ángel
authors: Á
authors: Garcia-Avello
authors: Vicente
authors: V
authors: Vicente
authors: Javier
authors: J
authors: Corral
mesh_terms: D000328:Adult; D000483:Alleles; D000925:Anticoagulants / Q000378:metabolism; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency / Q000235:genetics*; D005260:Female; D057809:HEK293 Cells; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D012307:Risk Factors
chemical_list: D000925:Anticoagulants; C542513:SERPINC1 protein, human; C069998:antithrombin Cambridge II; D000990:Antithrombin III