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Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C.

Resistance to activated protein C (APC) is the most prevalent inherited cause of venous thrombosis. The APC resistance phenotype is associated with a single point mutation in the factor V gene, changing Arg506 in the APC cleavage site to a Gln. We have investigated 50 Swedish families with inherited...

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Udgivet i:J Clin Invest
Principais autores: Zöller, B, Svensson, P J, He, X, Dahlbäck, B
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1994
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC330087/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7989612/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117623
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