Antithrombin III Sudbury: An Ala384 → pro mutation with abnormal thrombin-binding activity and thrombotic diathesis

This publication has 7 references indexed in Scilit:

• Incorporation of 7-deaza dGTP during the amplification step in the polymerase chain reaction procedure improves subsequent DNA sequencing
  DNA Sequence, 1990
• The Molecular Pathology of Inherited Human Antithrombin III Deficiency
  Transfusion Medicine Reviews, 1989
• Antithrombin Cambridge, 384 Ala to Pro: A new variant identified using the polymerase chain reaction
  FEBS Letters, 1989
• Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity
  Blood, 1988
• Diagnosis of α₁antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products
  Nucleic Acids Research, 1988
• Immunoelectrophoretic evidence of a thrombin-induced abnormality in a new variant of hereditary dysfunctional antithrombin III (AT III ‘Vicenza’)
  British Journal of Haematology, 1983
• Molecular Heterogeneity of Inherited Antithrombin III Deficiency
  New England Journal of Medicine, 1983