Identification of a new haemophilia BMcase produced by a mutation located at the carboxy terminal cleavage site of activation peptide
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.1991.tb04452.x/fullpdf
Reference23 articles.
1. Factor IX Deventer-Evidence for the Heterogeneity of Hemophilia BM
2. Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.
3. The CpG dinucleotide and human genetic disease
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1. F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes;Journal of Thrombosis and Haemostasis;2021-10-24
2. A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency;FEBS Journal;2007-10-30
3. Haemophilia B (sixth edition): a database of point mutations and short additions and deletions;Nucleic Acids Research;1996-01-01
4. Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994;Nucleic Acids Research;1994
5. Haemophilia B: database of point mutations and short additions and deletions—fourth edition, 1993;Nucleic Acids Research;1993
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