Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing‐based technology-Reference-Cited by-同舟云学术

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Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing‐based technology

Published:2021-10-28 Issue:1 Volume:28 Page:125-137
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Borràs Nina¹²^ORCID,Castillo‐González Dunia³,Comes Natalia¹²,Martin‐Fernandez Laura¹²,Rivero‐Jiménez René Antonio³,Chang‐Monteagudo Arturo³,Ruiz‐Moleón Vera³,Garrote‐Santana Heidys³,Vidal Francisco¹²⁴,Macías‐Abraham Consuelo³

Affiliation:

1. Congenital Coagulopathies Laboratory Blood and Tissue Bank Barcelona Spain

2. Transfusion Medicine Universitat Autònoma de Barcelona (VHIR‐UAB) Vall d'Hebron Research Institute Barcelona Spain

3. Institute of Haematology and Immunology Havana Cuba

4. Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV) Instituto Carlos III (ISCIII) Madrid Spain

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.14438

Reference40 articles.

1. Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males

2. Haemophilia A and haemophilia B: molecular insights

3. The past and future of haemophilia: diagnosis, treatments, and its complications

4. Next-generation gap

5. Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes

Cited by 2 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. Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers;American Journal of Medical Genetics Part A;2024-05-15

2. Spectrum of Causative Mutations in Patients with Hemophilia A in Russia;Genes;2023-01-19

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