Article
Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C gene.
Thrombosis and haemostasis - 1 Jul 1994
Soria J M, Brito D, Barceló J, Fontcuberta J, Botero L, Maldonado J, Estivill X, Sala N
Abstract excerpt
Single strand conformation polymorphism (SSCP) analysis of exon 7 of the protein C gene has identified a novel splice site missense mutation (184, Q-->H), in a newborn child with purpura fulminans and undetectable protein C levels. The mutations, seen in the homozygous state in the child and in t...
Topics
- Base Sequence
- Blood Coagulation Tests
- DNA, Recombinant
- Exons
- Female
- Homozygote
- Humans
- IgA Vasculitis
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Protein C
- Protein C Deficiency