Silent variant in F8 :c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A-Reference-Cited by-同舟云学术

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Silent variant in F8 :c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A

Published:2021-12-28 Issue:1 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Letelier Anna¹²,Ljung Rolf¹,Olsson Anna³^ORCID,Andersson Nadine G.¹⁴^ORCID

Affiliation:

1. Department of Clinical Sciences Lund (IKVL)—Pediatrics Lund University Lund Sweden

2. Department for Molecular Diagnostics Clinical Genetics Hemophilia Laboratory, Region Skåne Skåne University Hospital Lund Sweden

3. Department of Medicine Region Västra Götaland Sahlgrenska University Hospital Gothenburg Sweden

4. Department of Pediatric Hematology and Oncology, Region Skåne Skåne University Hospital Lund Sweden

Funder

Vetenskapsrådet

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1856

Reference12 articles.

1. Splicing mutations in human genetic disorders: examples, detection, and confirmation

2. ESEfinder: a web resource to identify exonic splicing enhancers

3. Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene

4. In silico tools for splicing defect prediction: a survey from the viewpoint of end users

5. The mutational constraint spectrum quantified from variation in 141,456 humans

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. Code inside the codon: The role of synonymous mutations in regulating splicing machinery and its impact on disease;Mutation Research/Reviews in Mutation Research;2022-07

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