Long-read sequencing identifies the first retrotransposon insertion and resolves structural variants causing antithrombin deficiency

2022
journal article
article
11
dc.affiliationWydział Lekarski : Instytut Kardiologiipl
dc.cm.date2022-07-18T03:13:25Z
dc.cm.id108776pl
dc.cm.idOmegaUJCM7674c901e8bb42819b869e9e27983fbcpl
dc.contributor.authorde la Morena-Barrio, Belénpl
dc.contributor.authorStephens, Jonathanpl
dc.contributor.authorde la Morena-Barrio, María Eugeniapl
dc.contributor.authorStefanucci, Lucapl
dc.contributor.authorPadilla, Josépl
dc.contributor.authorMinano, Antoniapl
dc.contributor.authorGleadall, Nicholaspl
dc.contributor.authorGarcía, Juan Luispl
dc.contributor.authorLópez-Fernández, María Fernandapl
dc.contributor.authorMorange, Pierre-Emmanuelpl
dc.contributor.authorPuurunen, Marjapl
dc.contributor.authorUndas, Anetta - 133708 pl
dc.contributor.authorVidal, Franciscopl
dc.contributor.authorRaymond, Frances Lucypl
dc.contributor.authorVicente, Vicentepl
dc.contributor.authorOuwehand, Willem H.pl
dc.contributor.authorCorral, Javierpl
dc.contributor.authorSanchis-Juan, Albapl
dc.date.accession2022-07-15pl
dc.date.accessioned2022-07-18T03:13:25Z
dc.date.available2022-07-18T03:13:25Z
dc.date.issued2022pl
dc.date.openaccess0
dc.description.accesstimew momencie opublikowania
dc.description.additionalOnline First 2022-06-28pl
dc.description.number08pl
dc.description.physical1369-1378pl
dc.description.versionostateczna wersja wydawcy
dc.description.volume122pl
dc.identifier.doi10.1055/s-0042-1749345pl
dc.identifier.eissn2567-689Xpl
dc.identifier.issn0340-6245pl
dc.identifier.urihttps://ruj.uj.edu.pl/xmlui/handle/item/297387
dc.identifier.weblinkhttps://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0042-1749345pl
dc.languageengpl
dc.language.containerengpl
dc.pbn.affiliationDziedzina nauk medycznych i nauk o zdrowiu : nauki medyczne
dc.rightsDodaję tylko opis bibliograficzny*
dc.rights.licenceCC-BY-NC-ND
dc.rights.uri*
dc.share.typeinne
dc.subtypeArticlepl
dc.titleLong-read sequencing identifies the first retrotransposon insertion and resolves structural variants causing antithrombin deficiencypl
dc.title.journalThrombosis and Haemostasispl
dc.typeJournalArticlepl
dspace.entity.typePublication
dc.affiliationpl
Wydział Lekarski : Instytut Kardiologii
dc.cm.date
2022-07-18T03:13:25Z
dc.cm.idpl
108776
dc.cm.idOmegapl
UJCM7674c901e8bb42819b869e9e27983fbc
dc.contributor.authorpl
de la Morena-Barrio, Belén
dc.contributor.authorpl
Stephens, Jonathan
dc.contributor.authorpl
de la Morena-Barrio, María Eugenia
dc.contributor.authorpl
Stefanucci, Luca
dc.contributor.authorpl
Padilla, José
dc.contributor.authorpl
Minano, Antonia
dc.contributor.authorpl
Gleadall, Nicholas
dc.contributor.authorpl
García, Juan Luis
dc.contributor.authorpl
López-Fernández, María Fernanda
dc.contributor.authorpl
Morange, Pierre-Emmanuel
dc.contributor.authorpl
Puurunen, Marja
dc.contributor.authorpl
Undas, Anetta - 133708
dc.contributor.authorpl
Vidal, Francisco
dc.contributor.authorpl
Raymond, Frances Lucy
dc.contributor.authorpl
Vicente, Vicente
dc.contributor.authorpl
Ouwehand, Willem H.
dc.contributor.authorpl
Corral, Javier
dc.contributor.authorpl
Sanchis-Juan, Alba
dc.date.accessionpl
2022-07-15
dc.date.accessioned
2022-07-18T03:13:25Z
dc.date.available
2022-07-18T03:13:25Z
dc.date.issuedpl
2022
dc.date.openaccess
0
dc.description.accesstime
w momencie opublikowania
dc.description.additionalpl
Online First 2022-06-28
dc.description.numberpl
08
dc.description.physicalpl
1369-1378
dc.description.version
ostateczna wersja wydawcy
dc.description.volumepl
122
dc.identifier.doipl
10.1055/s-0042-1749345
dc.identifier.eissnpl
2567-689X
dc.identifier.issnpl
0340-6245
dc.identifier.uri
https://ruj.uj.edu.pl/xmlui/handle/item/297387
dc.identifier.weblinkpl
https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0042-1749345
dc.languagepl
eng
dc.language.containerpl
eng
dc.pbn.affiliation
Dziedzina nauk medycznych i nauk o zdrowiu : nauki medyczne
dc.rights*
Dodaję tylko opis bibliograficzny
dc.rights.licence
CC-BY-NC-ND
dc.rights.uri*
dc.share.type
inne
dc.subtypepl
Article
dc.titlepl
Long-read sequencing identifies the first retrotransposon insertion and resolves structural variants causing antithrombin deficiency
dc.title.journalpl
Thrombosis and Haemostasis
dc.typepl
JournalArticle
dspace.entity.type
Publication
Affiliations

* The migration of download and view statistics prior to the date of April 8, 2024 is in progress.

Views
2
Views per month
Views per city
Ashburn
2

No access

No Thumbnail Available