[Type I hereditary protein C deficiency due to C5498T mutation in protein C gene].

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Article

[Type I hereditary protein C deficiency due to C5498T mutation in protein C gene].

Zhonghua yi xue za zhi - 10 Oct 2003

Zhou Rong-fu, Wang Hong-li, Fu Qi-hua, Wang Wen-bin, Wu Wen-man, Ding Qiu-lan, Xie Shuang, Hu Yi-qun, Wang Xue-feng, Wang Zhen-yi

Abstract excerpt

OBJECTIVE: To identify the gene mutation in a Chinese pedigree of type I hereditary protein C deficiency. METHODS: The plasma levels of protein C activity (PC:A), protein C antigen (PC:Ag), protein S activity, and anti-thrombin activity (AT:A) of the propositus, male, aged 7, and 11 members of the pedigree were detected using ELISA and chromogenic assay respectively. All of the nine exons and intron-exon...

Topics

Child
Female
Humans
Male
Mutation
Pedigree
Protein C
Protein C Deficiency

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Open in PubMed

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PMID: 14642106

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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