Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.

@article{Takamiya1993DetectionOM,
  title={Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.},
  author={Osamu Takamiya and Geoffrey Kemball-Cook and Donna M. Martin and David N. Cooper and A von Felten and Esther O. Meili and Ian Hann and D R Prangnell and Hillary Lumley and Edward G. D. Tuddenham},
  journal={Human molecular genetics},
  year={1993},
  volume={2 9},
  pages={1355-9}
}
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. DNA fragments showing aberrant mobility were sequenced. The following mutations were identified: in case 1 (FVII:C < 1%, FVII:Ag 18%) a heterozygous A to G transition at nucleotide 8915 in exon 6… CONTINUE READING