A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary
dc.contributor.author | Sümegi, Andrea | |
dc.contributor.author | Hendrik, Zoltán | |
dc.contributor.author | Gáll, Tamás | |
dc.contributor.author | Felszeghy, Enikő Noémi | |
dc.contributor.author | Szakszon, Katalin | |
dc.contributor.author | Antal-Szalmás, Péter | |
dc.contributor.author | Beke, Lívia | |
dc.contributor.author | Papp, Ágnes | |
dc.contributor.author | Méhes, Gábor | |
dc.contributor.author | Balla, József | |
dc.contributor.author | Balla, György | |
dc.date.accessioned | 2021-01-06T15:16:49Z | |
dc.date.available | 2021-01-06T15:16:49Z | |
dc.date.issued | 2020 | |
dc.date.oa | 2021-01-07 | |
dc.date.pasync | 2021-03-27T01:30:16Z | |
dc.date.updated | 2021-03-27T01:30:16Z | |
dc.description.corrector | LB | |
dc.identifier.citation | BMC Medical Genetics. -21 : 61 (2020), p. 1-12. -BMC Med. Genet. - 1471-2350. - 1471-2350 | |
dc.identifier.doi | http://dx.doi.org/10.1186/s12881-020-0985-6 | |
dc.identifier.issn | 1471-2350 | |
dc.identifier.opac | http://webpac.lib.unideb.hu:8082/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM090236 | |
dc.identifier.uri | http://hdl.handle.net/2437/300850 | |
dc.identifier.url | https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-020-0985-6 | |
dc.language | eng | |
dc.rights.access | open access journal | |
dc.subject.mab | Orvostudományok | |
dc.subject.mab | Klinikai orvostudományok | |
dc.tender | GINOP-2.3.2-15-2016-00043 | |
dc.tender | EFOP-3.6.2-16-2017-00006 | |
dc.tender | OTKA-112233 | |
dc.tender | Egyéb ED_18-1-2019-0028 | |
dc.title | A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary | |
dc.type | idegen nyelvű folyóiratközlemény külföldi lapban |
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