Complexity and diversity of F8 genetic variations in the 1000 genomes-Reference-Cited by-同舟云学术

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Complexity and diversity of F8 genetic variations in the 1000 genomes

Published:2015-10-20 Issue:11 Volume:13 Page:2031-2040
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

Li J. N.¹²,Carrero I. G.¹²,Dong J. F.³⁴,Yu F. L.¹²⁵

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston TX USA

2. Human Genome Sequencing Center; Baylor College of Medicine; Houston TX USA

3. Division of Hematology; Department of Medicine; School of Medicine; University of Washington; Seattle WA USA

4. Puget Sound Blood Center; Seattle WA USA

5. Tianjin Neurology Institute; Tianjin Medical University; Tianjin China

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jth.13144/fullpdf

Reference33 articles.

1. Haemophilia A: from mutation analysis to new therapies;Graw;Nat Rev Genet,2005

2. Molecular cloning of a cDNA encoding human antihaemophilic factor;Toole;Nature,1984

3. Murine coagulation factor VIII is synthesized in endothelial cells;Everett;Blood,2014

4. A conditional knockout mouse model reveals endothelial cells as the principal and possibly exclusive source of plasma factor VIII;Fahs;Blood,2014

5. Xq28 duplication overlapping the int22 h-1/int22 h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability;Andersen;Am J Med Genet A,2014

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1. Race, ethnicity, F8 variants, and inhibitor risk: analysis of the “My Life Our Future” hemophilia A database;Journal of Thrombosis and Haemostasis;2023-04

2. Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States;Journal of Thrombosis and Haemostasis;2022-09

3. The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees;Thrombosis Research;2021-06

4. Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia;Blood;2021-04-29

5. Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR;Research and Practice in Thrombosis and Haemostasis;2020-09-07

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