Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing-Reference-Cited by-同舟云学术

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Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing

Published:2023-07 Issue:7 Volume:21 Page:1779-1788
ISSN:1538-7836
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:Journal of Thrombosis and Haemostasis

Author:

de la Morena-Barrio Belén,Palomo Ángeles,Padilla José,Martín-Fernández Laura,Rojo-Carrillo Juan José,Cifuentes Rosa,Bravo-Pérez Carlos,Garrido-Rodríguez Pedro,Miñano Antonia,Rubio Ana María,Pagán Javier,Llamas María,Vicente Vicente,Vidal Francisco,Lozano María Luisa,Corral Javier,de la Morena-Barrio María Eugenia

Publisher

Elsevier BV

Subject

Hematology

Reference47 articles.

1. Activation of factor XI by products of prothrombin activation;Matafonov;Blood,2011

2. New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor;Rosenthal;Proc Soc Exp Biol Med,1953

3. Why factor XI deficiency is a clinical concern;Wheeler;Expert Rev Hematol,2016

4. Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency;Saunders;Thromb Haemost,2009

5. Congenital factor XI deficiency: an update;Duga;Semin Thromb Hemost,2013

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene;Mobile DNA;2024-05-04

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