Qualitative protein C deficiency due to PROC c.577_579delAAG mutation not detected by chromogenic assays: A case of intractable cerebral sinovenous thrombosis

Pediatr Blood Cancer. 2019 Jan;66(1):e27443. doi: 10.1002/pbc.27443. Epub 2018 Sep 25.

Authors

V Wang¹, K H Vo², Arash Mahajerin¹

Affiliations

¹ CHOC Children's Specialists, Division of Hematology, Orange, California.
² Eastern Virginia Medical School, Norfolk, Virginia.

PMID: 30255615
DOI: 10.1002/pbc.27443

No abstract available

Keywords: cerebral sinovenous thrombosis; mutation; protein C deficiency.

Publication types

Case Reports
Letter

MeSH terms

Biological Assay
Child
Gene Deletion*
Humans
Intracranial Thrombosis / genetics*
Intracranial Thrombosis / metabolism
Intracranial Thrombosis / pathology
Male
Prognosis
Protein C / genetics*
Protein C / metabolism
Protein C Deficiency / genetics*
Protein C Deficiency / metabolism
Protein C Deficiency / pathology
Sequence Analysis, DNA
Sinus Thrombosis, Intracranial / genetics*
Sinus Thrombosis, Intracranial / metabolism
Sinus Thrombosis, Intracranial / pathology

Substances

Protein C