Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1994 Aug;5(4):651-3.

A Novel Homozygous Missense Mutation (Val 325-->Ala) in the Protein C Gene Causing Neonatal Purpura Fulminans

Affiliations
  • PMID: 7841324
Case Reports

A Novel Homozygous Missense Mutation (Val 325-->Ala) in the Protein C Gene Causing Neonatal Purpura Fulminans

I Witt et al. Blood Coagul Fibrinolysis. .

Abstract

A novel homozygous GTG-->GCG (Val 325-->Ala) substitution was detected in the protein C gene of a newborn causing severe purpura fulminans post partum. In the consanguineous parents and two further infants a heterozygous type 1 protein C deficiency was found. Up to now the heterozygous individuals are clinically unaffected. The mutation co-segregates with the protein C deficiency state. It creates a restriction enzyme (Sac II) cleavage site.

Similar articles

See all similar articles

Cited by 1 article

Publication types

Feedback