Detection of hemophilia A genetic variants using third-generation long-read sequencing

Author:

Ling Xiaoting,Pan Liqiu,Li Linlin,Huang Yunhua,Wang Chenghan,Huang Chaoyu,Long Yan,Zhai Ningneng,Xiao Qingxing,Luo Jiaqi,Tang Rongheng,Meng Li,Huang Yifang

Funder

Natural Science Foundation of Guangxi Zhuang Autonomous Region

Guangxi Zhuang Autonomous Region Health Department

National Natural Science Foundation of China

Guangxi Innovation-Driven Development Project

Publisher

Elsevier BV

Reference32 articles.

1. Haemophilia nature reviews;Berntorp;Disease Primers.,2021

2. Factor VIII and Factor IX Activity Measurements for Hemophilia Diagnosis and Related Treatments;Bowyer;Seminars in Thrombosis and Hemostasis.,2023

3. Prospective observational cohort studies for studying rare diseases: the European PedNet Haemophilia Registry Haemophilia:;Fischer;The Official Journal of the World Federation of Hemophilia.,2014

4. T. Wang, Y. Tang, Y. Tao, H. Zhou, D. Ding, Nucleic acid drug and delivery techniques for disease therapy: Present situation and future prospect, Interdisciplinary Medicine. (2024).

5. Use of two complementary new molecular techniques, next-generation sequencing and droplet digital PCR, for diagnosis of an F8 gene deletion and subsequent carrier analysis in a family with haemophilia A: A Case Report;Gangodkar;Haemophilia : the Official Journal of the World Federation of Hemophilia.,2018

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