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Article

A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jun 2011

Jiang Minghua, Wang Zhaoyue, Yu Ziqiang, Bai Xia, Su Jian, Cao Lijuan, Zhang Wei, Ruan Changgeng

Abstract excerpt

Congenital factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder. Its clinical manifestation and mutational spectrum are highly variable. The purpose of this study was to identify and characterize the mutation causing the FVII deficiency in a Chinese patient and his family. The FVII gene was analyzed by genomic DNA sequencing, and the FVII levels in patient's plasma were measured with an...

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PMID: 21372693
DOI: 10.1097/MBC.0b013e3283447388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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