Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity-Reference-Cited by-同舟云学术

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Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity

Published:2017-11-23 Issue:2 Volume:103 Page:344-350
ISSN:0390-6078
Container-title:Haematologica
language:en
Short-container-title:Haematologica

Author:

Donadon Irving,McVey John H.,Garagiola Isabella,Branchini Alessio,Mortarino Mimosa,Peyvandi Flora,Bernardi Francesco,Pinotti Mirko

Publisher

Ferrata Storti Foundation (Haematologica)

Subject

Hematology

Cited by 28 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. DNA base editing corrects common hemophilia A mutations and restores factor VIII expression in in vitro and ex vivo models;Journal of Thrombosis and Haemostasis;2024-08

2. Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation;Journal of Thrombosis and Haemostasis;2024-04

3. Impact of timing of prophylaxis commencement, F8 genotype and age on factor consumption and health‐related quality of life in patients with severe haemophilia A;Haemophilia;2023-05-30

4. Using insights from genomics to increase possibilities for treatment of genetic diseases;Progress in Genomic Medicine;2022

5. Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor;Human Mutation;2021-12-17

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