A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.

Article Details

Citation

Witt I, Beck S, Seydewitz HH, Tasangil C, Schenck W

A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.

Blood Coagul Fibrinolysis. 1994 Aug;5(4):651-3.

PubMed ID
7841324 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Vitamin K-dependent protein CP04070Details