Article
Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).
Human genetics - 1 Jul 1992
Marchetti G, Patracchini P, Gemmati D, DeRosa V, Pinotti M, Rodorigo G, Casonato A, Girolami A, Bernardi F
Abstract excerpt
The 3' portion of the coagulation factor VII gene, containing the activation and serine protease domains, was investigated in four subjects with factor VII deficiency by temperature gradient gel electrophoresis and sequencing of polymerase chain reaction (PCR) products. Molecules displaying an al...
Topics
- Base Sequence
- Child
- Chromosome Aberrations
- Chromosomes, Human, Pair 13
- DNA Mutational Analysis
- Factor VII
- Factor VII Deficiency
- Factor X Deficiency
- Female
- Genes
- Glutamine
- Humans
- Italy
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction