AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides-Reference-Cited by-同舟云学术

AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides

Published:2020-03-11 Issue:6 Volume:41 Page:1145-1156
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Wimmer Katharina¹^ORCID,Schamschula Esther¹^ORCID,Wernstedt Annekatrin¹,Traunfellner Pia¹,Amberger Albert¹,Zschocke Johannes¹^ORCID,Kroisel Peter²^ORCID,Chen Yunjia³,Callens Tom³,Messiaen Ludwine³^ORCID

Affiliation:

1. Institute of Human Genetics, Department of Genetics and PharmacologyMedical University of Innsbruck Innsbruck Austria

2. Diagnostic & Research Institute of Human Genetics, Diagnostic & Research Center for Molecular BioMedicineMedical University of GrazGraz Austria

3. Department of GeneticsUniversity of Alabama at BirminghamBirmingham Alabama

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24005

Reference29 articles.

1. Bimolecular Exon Ligation by the Human Spliceosome

2. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

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4. Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

5. Listening to silence and understanding nonsense: exonic mutations that affect splicing

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