A Deep Intronic Variant Activates a Pseudoexon in the
Deep intron
Exonization
MTM1
Pseudoexon
RNA splicing
XLMTM
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
27
05
2020
accepted:
19
07
2020
entrez:
28
1
2021
pubmed:
29
1
2021
medline:
29
1
2021
Statut:
ppublish
Résumé
We report a novel intronic variant in the
Identifiants
pubmed: 33505229
doi: 10.1159/000510286
pii: msy-0011-0264
pmc: PMC7802444
doi:
Types de publication
Journal Article
Langues
eng
Pagination
264-270Informations de copyright
Copyright © 2020 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
Références
Nucleic Acids Res. 2011 Jan;39(Database issue):D86-91
pubmed: 20929868
Hum Mutat. 1999;13(4):311-7
pubmed: 10220145
Sci Transl Med. 2017 Apr 19;9(386):
pubmed: 28424332
EMBO J. 2010 Feb 17;29(4):749-60
pubmed: 20094034
Arch Neurol. 1966 Jan;14(1):1-14
pubmed: 4954227
Nucleic Acids Res. 2009 May;37(9):e67
pubmed: 19339519
Genet Med. 2019 Jul;21(7):1629-1638
pubmed: 30467404
Neurology. 2019 Oct 15;93(16):e1535-e1542
pubmed: 31541013
Neuromuscul Disord. 2010 Jun;20(6):375-81
pubmed: 20434914
FEBS J. 2010 Feb;277(4):841-55
pubmed: 20082636
Hum Mutat. 2000;15(5):393-409
pubmed: 10790201
Nucleic Acids Res. 2007;35(13):4369-83
pubmed: 17580311
JCI Insight. 2019 Mar 21;4(6):
pubmed: 30895940
Am J Hum Genet. 2019 May 2;104(5):1007
pubmed: 31051109
Nucleic Acids Res. 2013 Jan;41(Database issue):D48-55
pubmed: 23203987
Neurology. 1969 Sep;19(9):901-8
pubmed: 5816884