Factor V haemostatic diathesis impairing thrombin activation, membrane binding and circulating antigen level due to a novel compound heterozygous mutation, Leu1821Ser and Gly2192Cys

These findings are consistent with the observed phenotype, highlighting the importance of understanding FV biochemical function to rationalize clinical bleeding severity when the circulating antigen level is discordant.

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Publication Details

Journal
Haemophilia
Published
2024-08-08
DOI
https://doi.org/10.1111/hae.15087
Primary Topic
Blood Coagulation and Thrombosis Mechanisms
Type
article
Field-Weighted Citation Impact
0.00

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article

Factor V haemostatic diathesis impairing thrombin activation, membrane binding and circulating antigen level due to a novel compound heterozygous mutation, Leu1821Ser and Gly2192Cys

Ross T. A. MacGillivray, Kimberley Talbot, Shannon Jackson, Edward L.G. Pryzdial et al.
1 links
Haemophilia
Blood Coagulation and Thrombosis Mechanisms
article

Factor V haemostatic diathesis impairing thrombin activation, membrane binding and circulating antigen level due to a novel compound heterozygous mutation, Leu1821Ser and Gly2192Cys

Ross T. A. MacGillivray, Kimberley Talbot, Shannon Jackson, Edward L.G. Pryzdial, Jina Song, J. Perrier
article en

Abstract

These findings are consistent with the observed phenotype, highlighting the importance of understanding FV biochemical function to rationalize clinical bleeding severity when the circulating antigen level is discordant.

HaemophiliaVol. 30(5)
University of British Columbia Hospital (CA), Providence Health Care (CA), University of British Columbia (CA), St. Paul's Hospital (CA), Canadian Blood Services (CA)
Heart and Stroke Foundation of Canada, Canadian Blood Services, Centre for Blood Research, University of British Columbia
Good health and well-being
Openalex Percentile: Top 81%
Blood Coagulation and Thrombosis Mechanisms
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Factor V haemostatic diathesis impairing thrombin activation, membrane binding and circulating antigen level due to a novel compound heterozygous mutation, Leu1821Ser and Gly2192Cys — Ross T. A. MacGillivray, Kimberley Talbot, et al. · Haemophilia (2024) | TGRS Research Map | TGRS