An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B. (Q30429771)

21 June 2017

An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B. (English)

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21 June 2017

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coagulation factor IX

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P M Rallapalli

1

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21 June 2017

G Kemball-Cook

2

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21 June 2017

E G Tuddenham

3

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21 June 2017

K Gomez

4

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21 June 2017

S J Perkins

5

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21 June 2017

1 July 2013

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Journal of Thrombosis and Haemostasis

21 June 2017

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21 June 2017

11

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21 June 2017

7

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21 June 2017

1329-1340

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Activation of human factor IX (Christmas factor)

21 June 2017

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Redetermination of the rate-limiting step in the activation of factor IX by factor XIa and by factor VIIa/tissue factor. Explanation for different electrophoretic radioactivity profiles obtained on activation of 3H- and 125I-labeled factor IX.

21 January 2018

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Antibody-probed conformational transitions in the protease domain of human factor IX upon calcium binding and zymogen activation: putative high-affinity Ca(2+)-binding site in the protease domain

21 January 2018

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The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions

21 January 2018

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Key residues involved in calcium-binding motifs in EGF-like domains

21 January 2018

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The three‐dimensional structure of the first EGF‐like module of human factor IX: Comparison with EGF and TGF‐α

21 January 2018

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Identity of the putative serine-proteinase fold in proteins of the complement system with nine relevant crystal structures

21 January 2018

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Insufficient evidence to suggest less stringent therapy in hemophilia B?

21 January 2018

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Haemophilia B: database of point mutations and short additions and deletions, 7th edition

21 January 2018

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Structure of the metal-free gamma-carboxyglutamic acid-rich membrane binding region of factor IX by two-dimensional NMR spectroscopy

21 January 2018

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Coagulation factor IXa: the relaxed conformation of Tyr99 blocks substrate binding

21 January 2018

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Protease and EGF1 domains of factor IXa play distinct roles in binding to factor VIIIa. Importance of helix 330 (helix 162 in chymotrypsin) of protease domain of factor IXa in its interaction with factor VIIIa

21 January 2018

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Regions 301-303 and 333-339 in the catalytic domain of blood coagulation factor IX are factor VIII-interactive sites involved in stimulation of enzyme activity.

21 January 2018

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The factor IXa heparin-binding exosite is a cofactor interactive site: mechanism for antithrombin-independent inhibition of intrinsic tenase by heparin.

21 January 2018

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Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B.

21 January 2018

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Structural basis of the cofactor- and substrate-assisted activation of human coagulation factor IXa

21 January 2018

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X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B

21 January 2018

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Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools

21 January 2018

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The human gene mutation database

21 January 2018

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The Human Gene Mutation Database: 2008 update

21 January 2018

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On first-order-logic databases

21 January 2018

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Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

21 January 2018

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Modeller: generation and refinement of homology-based protein structure models

21 January 2018

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Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

21 January 2018

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The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization.

21 January 2018

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Influence of source of phospholipids for APTT-based factor IX assays and potential consequences for the diagnosis of mild haemophilia B.

21 January 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

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Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)

21 January 2018

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Genotype analysis identifies the cause of the "royal disease"

21 January 2018

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Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

21 January 2018

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CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series

21 January 2018

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Recovery from Hemophilia B Leyden: An Androgen-Responsive Element in the Factor IX Promoter

21 January 2018

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Structure-function relationships in factor IX and factor IXa.

21 January 2018

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Identification of factor IX gene defects using a multiplex PCR and CSGE strategy-a first report

21 January 2018

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Inhibitor development in haemophilia B: an orphan disease in need of attention

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/JTH.12276

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21 June 2017

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