Article
Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.
Human molecular genetics - 1 Sept 1993
Takamiya O, Kemball-Cook G, Martin D M, Cooper D N, von Felten A, Meili E, Hann I, Prangnell D R, Lumley H, Tuddenham E G
Abstract excerpt
Five unrelated subjects with dysfunctional coagulation factor VII (FVII) were studied in order to identify missense mutations affecting function. Exons 2 to 8 and the intron-exon junctions of their FVII genes were amplified from peripheral white blood cell DNA by PCR and screened by SSCP analysis...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Cattle
- Conserved Sequence
- DNA
- DNA Mutational Analysis
- Factor VII
- Factor VII Deficiency
- Humans
- Models, Molecular