Article
De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.
Genomics - 1 Aug 1992
Berg L P, Grundy C B, Thomas F, Millar D S, Green P J, Slomski R, Reiss J, Kakkar V V, Cooper D N
Abstract excerpt
A single basepair substitution at conserved position -1 in the exon 3a donor splice site of the liver-expressed antithrombin III (AT3) gene was detected by PCR/direct sequencing in a patient with sporadic type 1 ATIII deficiency and recurrent venous thrombosis. The lesion, a heterozygous silent A...
Topics
- Antithrombin III
- Base Sequence
- Exons
- Heterozygote
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- RNA Splicing
- Recurrence
- Thrombophlebitis
- Transcription, Genetic