Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome-Reference-Cited by-同舟云学术

Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome

Published:2021-12-05 Issue:2 Volume:43 Page:103-127
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Petersen Ulrika S. S.¹,Doktor Thomas K.¹,Andresen Brage S.¹^ORCID

Affiliation:

1. Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences University of Southern Denmark Odense M Denmark

Funder

Sundhed og Sygdom, Det Frie Forskningsråd

Novo Nordisk Fonden

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24306

Reference157 articles.

1. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

2. Differential GC Content between Exons and Introns Establishes Distinct Strategies of Splice-Site Recognition

3. Heteromeric RNP Assembly at LINEs Controls Lineage-Specific RNA Processing

4. HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing

5. The splicing code

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