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

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Show simple item record Fadaie, Zeinab en Khan, Mubeen en Del Pzo-oValero, Marta en Cornelis, Stephanie S en Ayuso, Carmen en Cremers, Frans PM en Roosing, Susanne en Allikmets, Rando en Bauwens, Miriam en Ghofrani, Mohammad en Gorin, Michael B en Keramatipour, Mohammad en Simonelli, Francesca en Tayebi, Naeimeh en Vincent, Andrea en Weisschuh, Nicole en 2019-11-25T00:26:05Z en 2019-09-03 en
dc.identifier.citation HUMAN MUTATION 12 pages 03 Sep 2019 en
dc.identifier.issn 1059-7794 en
dc.identifier.uri 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 en
dc.rights.uri 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 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 en
pubs.end-page 2376 en
pubs.publication-status Published en
dc.rights.accessrights en
pubs.subtype Article en
pubs.subtype Journal en
pubs.elements-id 783502 en Medical and Health Sciences en School of Medicine en Ophthalmology Department en
dc.identifier.eissn 1098-1004 en

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