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Article

Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813 ∗ and two variants specific to East Asians.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 2023

Lin Hsuan-Yu, Lin Ching-Yeh, Kuo Su-Feng, Lin Jen-Shiou, Lin Po-Te, Huang Ying-Chih, Hsieh Han-Ni, Shen Ming-Ching

Abstract excerpt

Congenital coagulation factor V deficiency (FVD) is a rare, autosomal recessive bleeding disorder. We characterized the clinical presentations, laboratory features, and genetic alterations of Taiwanese patients with FVD. From 1983 to 2010, five women, one man, and one boy diagnosed with FVD were enrolled in this study. The factor V coagulant activity was determined using a one-stage prothrombin time-based test....

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Identifiers

PMID: 35946468
DOI: 10.1097/MBC.0000000000001162
PMCID: PMC9799032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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