Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4

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dc.contributor.author Fadaie, Zeinab en
dc.contributor.author Khan, Mubeen en
dc.contributor.author Del Pzo-oValero, Marta en
dc.contributor.author Cornelis, Stephanie S en
dc.contributor.author Ayuso, Carmen en
dc.contributor.author Cremers, Frans PM en
dc.contributor.author Roosing, Susanne en
dc.contributor.author Allikmets, Rando en
dc.contributor.author Bauwens, Miriam en
dc.contributor.author Ghofrani, Mohammad en
dc.contributor.author Gorin, Michael B en
dc.contributor.author Keramatipour, Mohammad en
dc.contributor.author Simonelli, Francesca en
dc.contributor.author Tayebi, Naeimeh en
dc.contributor.author Vincent, Andrea en
dc.contributor.author Weisschuh, Nicole en
dc.date.accessioned 2019-11-25T00:26:05Z en
dc.date.issued 2019-09-03 en
dc.identifier.citation HUMAN MUTATION 12 pages 03 Sep 2019 en
dc.identifier.issn 1059-7794 en
dc.identifier.uri http://hdl.handle.net/2292/49108 en
dc.language English en
dc.publisher WILEY en
dc.relation.ispartofseries HUMAN MUTATION en
dc.rights Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher. en
dc.rights.uri https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm en
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/ en
dc.rights.uri en
dc.subject Science & Technology en
dc.subject Life Sciences & Biomedicine en
dc.subject Genetics & Heredity en
dc.subject ABCA4 en
dc.subject deep-intronic variants en
dc.subject noncanonical splice site variant en
dc.subject splice enhancers en
dc.subject splice silencers en
dc.subject Stargardt disease en
dc.subject STARGARDT DISEASE en
dc.subject MESSENGER-RNA en
dc.subject GENE en
dc.subject MUTATIONS en
dc.subject ENHANCERS en
dc.subject ELEMENTS en
dc.subject RESCUE en
dc.title Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4 en
dc.type Journal Article en
dc.identifier.doi 10.1002/humu.23890 en
pubs.issue 12 en
pubs.begin-page 2365 en
pubs.volume 40 en
dc.rights.holder Copyright: The authors en
pubs.author-url http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000484821400001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=6e41486220adb198d0efde5a3b153e7d en
pubs.end-page 2376 en
pubs.publication-status Published en
dc.rights.accessrights http://purl.org/eprint/accessRights/OpenAccess en
pubs.subtype Article en
pubs.subtype Journal en
pubs.elements-id 783502 en
pubs.org-id Medical and Health Sciences en
pubs.org-id School of Medicine en
pubs.org-id Ophthalmology Department en
dc.identifier.eissn 1098-1004 en


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https://creativecommons.org/licenses/by-nc-nd/4.0/ Except where otherwise noted, this item's license is described as https://creativecommons.org/licenses/by-nc-nd/4.0/

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