Article
Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343.
Blood - 15 Jan 1991
James H L, Girolami A, Fair D S
Abstract excerpt
Our previous findings suggested that coagulation factor XFriuli could be functionally defective owing to a point mutation in the portion of the factor X gene coding for the fully activated heavy chain. To verify the existence of this postulated change, we analyzed all eight exons of the normal and Friuli factor X gene. Each exon was amplified from genomic DNA using the polymerase chain reaction and cloned into...
Topics
- Amino Acid Sequence
- Base Sequence
- Blood Coagulation Disorders
- Computer Graphics
- Factor X
- Humans
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Proline