Hereditary protein C deficiency caused by compound heterozygous mutants in two independent Chinese families.

doi:10.1097/PAT.0000000000000165

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Article

Hereditary protein C deficiency caused by compound heterozygous mutants in two independent Chinese families.

Pathology - 1 Dec 2014

Wu Ying-Ting, Yue Fei, Wang Min, Lu Ye-Ling, Dai Jing, Ding Qiu-Lan, Wang Hong-Li, Chen Hui-Fen, Wang Xue-Feng

Abstract excerpt

We report two compound heterozygous mutants that caused severe type I protein C (PC) deficiency in two independent Chinese families.PC antigen was determined by enzyme-linked immunosorbent assay (ELISA), and PC activity was measured by chromogenic assay. Genetic mutations were screened with polymerase chain reaction (PCR) followed by direct sequencing. PC mutants were transiently expressed in COS-7 cells for the...

Topics

Adult
Animals
Asian People
COS Cells
Cell Line
Enzyme-Linked Immunosorbent Assay
Heterozygote
Humans
Male
Mutation
Pedigree
Protein C Deficiency
Pulmonary Embolism
Venous Thrombosis
Young Adult

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Open in PubMed

Identifiers

PMID: 25393254
DOI: 10.1097/PAT.0000000000000165

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