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A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

2023
journal article
article
10.1038/s10038-023-01135-3
Journal
Journal of Human Genetics
100
Author
Kojic Marija

Abbassi Nour

Lin Ting-Yu

Jones Alun

Wakeling Emma L.
Show more
Volume
68
Number
7
Pages
445-453
ISSN
1434-5161
eISSN
1435-232X
Language
English
Journal language
English
Affiliation
Pion Prorektora ds. badań naukowych : Małopolskie Centrum Biotechnologii
Scopus© citations
8
dc.affiliationPion Prorektora ds. badań naukowych : Małopolskie Centrum Biotechnologii
dc.contributor.authorKojic, Marija
dc.contributor.authorAbbassi, Nour
dc.contributor.authorLin, Ting-Yu - 362976
dc.contributor.authorJones, Alun
dc.contributor.authorWakeling, Emma L.
dc.contributor.authorClement, Emma
dc.contributor.authorNakou, Vasiliki
dc.contributor.authorSingleton, Matthew
dc.contributor.authorDobosz, Dominika - 202819
dc.contributor.authorKaliakatsos, Marios
dc.contributor.authorGlatt, Sebastian - 256780
dc.contributor.authorWainwright, Brandon J.
dc.date.accessioned2025-03-04T11:59:43Z
dc.date.available2025-03-04T11:59:43Z
dc.date.createdat2025-02-27T11:29:09Zen
dc.date.issued2023
dc.date.openaccess0
dc.description.accesstimew momencie opublikowania
dc.description.number7
dc.description.physical445-453
dc.description.versionostateczna wersja wydawcy
dc.description.volume68
dc.identifier.doi10.1038/s10038-023-01135-3
dc.identifier.eissn1435-232X
dc.identifier.issn1434-5161
dc.identifier.urihttps://ruj.uj.edu.pl/handle/item/549773
dc.languageeng
dc.language.containereng
dc.rightsUdzielam licencji. Uznanie autorstwa 4.0 Międzynarodowa
dc.rights.licenceCC-BY
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/legalcode.pl
dc.share.typeinne
dc.subtypeArticle
dc.titleA novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype
dc.title.journalJournal of Human Genetics
dc.typeJournalArticle
dspace.entity.typePublicationen
dc.affiliation
Pion Prorektora ds. badań naukowych : Małopolskie Centrum Biotechnologii
dc.contributor.author
Kojic, Marija
dc.contributor.author
Abbassi, Nour
dc.contributor.author
Lin, Ting-Yu - 362976
dc.contributor.author
Jones, Alun
dc.contributor.author
Wakeling, Emma L.
dc.contributor.author
Clement, Emma
dc.contributor.author
Nakou, Vasiliki
dc.contributor.author
Singleton, Matthew
dc.contributor.author
Dobosz, Dominika - 202819
dc.contributor.author
Kaliakatsos, Marios
dc.contributor.author
Glatt, Sebastian - 256780
dc.contributor.author
Wainwright, Brandon J.
dc.date.accessioned
2025-03-04T11:59:43Z
dc.date.available
2025-03-04T11:59:43Z
dc.date.createdaten
2025-02-27T11:29:09Z
dc.date.issued
2023
dc.date.openaccess
0
dc.description.accesstime
w momencie opublikowania
dc.description.number
7
dc.description.physical
445-453
dc.description.version
ostateczna wersja wydawcy
dc.description.volume
68
dc.identifier.doi
10.1038/s10038-023-01135-3
dc.identifier.eissn
1435-232X
dc.identifier.issn
1434-5161
dc.identifier.uri
https://ruj.uj.edu.pl/handle/item/549773
dc.language
eng
dc.language.container
eng
dc.rights
Udzielam licencji. Uznanie autorstwa 4.0 Międzynarodowa
dc.rights.licence
CC-BY
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/legalcode.pl
dc.share.type
inne
dc.subtype
Article
dc.title
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype
dc.title.journal
Journal of Human Genetics
dc.type
JournalArticle
dspace.entity.typeen
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