Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.1995.tb03319.x/fullpdf
Reference12 articles.
1. Five novel factor IX mutations in unrelated hemophilia B families;Chen;Human Molecular Genetics,1993
2. CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series;Chen;Human Genetics,1991
3. Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French sample;Ghanem;European Journal of Human Genetics,1993
4. Haemophilia B: database of point mutations and short additions and deletions, fourth edition;Giannelli;Nucleic Acids Research,1993
5. Molecular defect in factor IX Tokyo: substitution of Val 182 by Ala at position P2' in the second cleavage site by factor XI a resulting in the impaired activation;Maekawa;Biochemistry,1993
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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. Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B;PLOS Genetics;2020-04-08
3. 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
4. A Novel Gene Expression System: Non‐Viral Gene Transfer for Hemophilia as Model Systems;Non-Viral Vectors for Gene Therapy, Second Edition: Part 2;2005
5. Rapid and Robust Screening of the Menkes Disease/Occipital Horn Syndrome Gene;Genetic Testing;2002-12
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