Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants-Reference-Cited by-同舟云学术

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Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

Published:2019-06-30 Issue:8 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Katneni Upendra K.¹,Liss Aaron¹,Holcomb David¹,Katagiri Nobuko H.¹,Hunt Ryan¹,Bar Haim²,Ismail Amra³,Komar Anton A.³,Kimchi‐Sarfaty Chava¹^ORCID

Affiliation:

1. Hemostasis Branch, Division of Plasma Protein Therapeutics, Office of Tissues and Advanced Therapies, Center for Biologics Evaluation & Research US FDA Silver Spring Maryland

2. Department of Statistics University of Connecticut Storrs Connecticut

3. Department of Biological, Geological and Environmental Sciences, Center for Gene Regulation in Health and Disease Cleveland State University Cleveland Ohio

Funder

U.S. Food and Drug Administration

U.S. Department of Energy

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.840

Reference39 articles.

1. The gene structure of human anti-haemophilic factor IX.

2. A new and updated resource for codon usage tables

3. An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants

4. A Synonymous Single Nucleotide Polymorphism in ΔF508 CFTR Alters the Secondary Structure of the mRNA and the Expression of the Mutant Protein

5. Haemophilia A and haemophilia B: molecular insights

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4. Methods to Evaluate the Effects of Synonymous Variants;Single Nucleotide Polymorphisms;2022

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