Article
Homozygous protein C deficiency with a double variant His 202 to Tyr and Ala 346 to Thr.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jun 1998
Kemahli S, Alhenc-Gelas M, Gandrille S, Aiach M, Akar N, Cin S
Abstract excerpt
We present the protein C gene analysis of a patient with homozygous protein C deficiency. The patient was referred with purpura fulminans 3 h after birth. Skin necroses had developed on the scalp, abdomen and upper extremities when he was two days old. His protein C activity was 0.03-0.05 IU/ml a...
Topics
- Alanine
- Amino Acid Substitution
- Base Sequence
- Consanguinity
- Genetic Variation
- Histidine
- Homozygote
- Humans
- Infant, Newborn
- Male
- Mutation
- Pedigree
- Protein C
- Protein C Deficiency
- Threonine
- Tyrosine