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Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.

Factor XI (plasma thromboplastin antecedent) deficiency is a blood coagulation abnormality occurring in high frequency in Ashkenazi Jews. Three independent point mutations that result in a blood coagulation abnormality have been identified in the factor XI gene of six unrelated Ashkenazi patients. T...

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Bibliografiske detaljer
Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Asakai, R, Chung, D W, Ratnoff, O D, Davie, E W
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1989
Fag:
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC298131/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2813350/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.20.7667
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