De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis

This publication has 10 references indexed in Scilit:

• The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
  Human Genetics, 1992
• Recurrent deletion in the human antithrombin III gene
  Blood, 1991
• The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene
  Blood, 1990
• Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA
  Human Genetics, 1990
• Exon definition may facilitate splice site selection in RNAs with multiple exons.
  Molecular and Cellular Biology, 1990
• Access to a Messenger RNA Sequence or Its Protein Product Is Not Limited by Tissue or Species Specificity
  Science, 1989
• Antithrombin III deficiency
  Blood Reviews, 1988
• Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site
  Biochemistry, 1988
• SPLICING OF MESSENGER RNA PRECURSORS
  Annual Review of Biochemistry, 1986
• Assignment of the human antithrombin III structural gene to chromosome 1q23–25
  Cytogenetic and Genome Research, 1985