A novel homozygous missense mutation in exon 3 at codon 42 c.125G>A (p.Arg42His) in the PROC gene causing protein C deficiency and presenting as neonatal purpura fulminans
Author:
Affiliation:
1. Department of Dermatology & Venereology, Government Medical College, Trivandrum, India
Publisher
Scientific Scholar
Reference6 articles.
1. A novel mutation c.1048A>T at codon 350(Lys>Stop) in PROC gene causing neonatal purpura fulminans;Jain;Blood Coagul Fibrinolysis,2013
2. Management of neonatal purpura fulminans with severe protein C deficiency;Sen;Indian Pediatr,2006
3. Diagnosis and management of neonatal purpura fulminans;Price;Semin Fetal Neonatal Med,2011
4. Diagnosis and treatment of homozygous protein C deficiency. Report of the working party on homozygous protein C deficiency of the subcommittee on protein C and protein S, international committee on thrombosis and haemostasis;Marlar;J Pediatr,1989
5. Ophthalmic manifestations of congenital protein C deficiency: A case report and mini review;Ghassemi;BMC Ophthalmol,2020
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