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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...

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PMID: 25393254
DOI: 10.1097/PAT.0000000000000165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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