Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency-Reference-Cited by-同舟云学术

Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency

Published:2022-05 Issue:5 Volume:24 Page:462-475
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

de la Morena-Barrio Belén,Orlando Christelle^ORCID,Sanchis-Juan Alba,García Juan L.,Padilla José,de la Morena-Barrio María E.,Puruunen Marija,Stouffs Katrien^ORCID,Cifuentes Rosa,Borràs Nina,Bravo-Pérez Carlos,Benito Rocio,Cuenca-Guardiola Javier^ORCID,Vicente Vicente,Vidal Francisco^ORCID,Hernández-Rivas Jesús M.,Ouwehand Willem,Jochmans Kristin,Corral Javier

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference24 articles.

1. The genetics of antithrombin;Corral;Thromb Res,2018

2. Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency: partial/complete deletions and rearrangement of the antithrombin gene;Beauchamp;Thromb Haemost,2000

3. Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population;Kim;Haematologica,2014

4. Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort;Caspers;Thromb Haemost,2012

5. Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect;de la Morena-Barrio;J Thromb Haemost,2016

Cited by 7 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 genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development;American Journal of Medical Genetics Part A;2023-12-22

2. Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders;Journal of Thrombosis and Haemostasis;2023-11

3. Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing;iScience;2023-11

4. Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing;Journal of Thrombosis and Haemostasis;2023-07

5. Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency;International Journal of Molecular Sciences;2023-03-06