Article
Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene.
Blood - 1 Sept 1998
Pinotti M, Toso R, Redaelli R, Berrettini M, Marchetti G, Bernardi F
Abstract excerpt
In three Italian patients, two point mutations and a short deletion were found in the intron 7 of factor VII gene, clustered in the donor splice site and located in the first of several repeats. The mutation 9726+5G-->A, the most frequent cause of symptomatic factor VII deficiency in Italy, as we...
Topics
- Animals
- Cell Line
- Cricetinae
- Factor VII
- Female
- Gene Deletion
- Gene Expression
- Humans
- Introns
- Italy
- Kidney
- Leukocytes
- Mutagenesis, Site-Directed
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger