Characterization of five associations ofF8missense mutations containing FVIII B domain mutations-Reference-Cited by-同舟云学术

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Characterization of five associations ofF8missense mutations containing FVIII B domain mutations

Published:2016-02-25 Issue:4 Volume:22 Page:583-589
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Jourdy Y.¹²,Nougier C.¹²,Roualdes O.¹²,Fretigny M.¹,Durand B.³,Negrier C.¹²,Vinciguerra C.¹²

Affiliation:

1. Hospices Civils de Lyon; Hôpital Edouard Herriot; Service d'hématologie Biologique; Lyon France

2. EAM 4174 Hémostase; Inflammation et Sepsis; Université Claude Bernard Lyon1; Université de Lyon; Lyon France

3. Hospices Civils de Lyon; Hôpital de la Croix Rousse; Service d'hématologie Biologique; Lyon France

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12906/fullpdf

Reference31 articles.

1. Molecular basis of haemophilia A;Oldenburg;Haemophilia,2004

2. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis;White;Thromb Haemost,2001

3. Structure of human factor VIII;Vehar;Nature,1984

4. Distribution of factor VIII mRNA and antigen in human liver and other tissues;Wion;Nature,1985

5. Tissue distribution of factor VIII gene expression in vivo-a closer look;Hollestelle;Thromb Haemost,2001

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1. Translational readthrough at <i>F8</i> nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association;Haematologica;2022-08-04

2. Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function;The American Journal of Human Genetics;2021-08

3. Surgical management of endometriosis in a severe Hemophilia A female patient and the role of transfusion medicine specialist: A case report with review of literature;Asian Journal of Transfusion Science;2021

4. Blood coagulation factor VIII D1241E polymorphism leads to a weak malectin interaction and reduction of factor VIII posttranslational modification and secretion;Experimental Cell Research;2020-12

5. Functional identification of factor VIII B domain regions in hepatocyte cells;Biochemical and Biophysical Research Communications;2020-06

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