Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction...
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
About this item
Full title
Author / Creator
Sangermano, Riccardo , Garanto, Alejandro , Khan, Mubeen , Runhart, Esmee H. , Bauwens, Miriam , Bax, Nathalie M. , van den Born, L. Ingeborgh , Khan, Muhammad Imran , Cornelis, Stéphanie S. , Verheij, Joke B. G. M. , Pott, Jan-Willem R. , Thiadens, Alberta A. H. J. , Klaver, Caroline C. W. , Puech, Bernard , Meunier, Isabelle , Naessens, Sarah , Arno, Gavin , Fakin, Ana , Carss, Keren J. , Raymond, F. Lucy , Webster, Andrew R. , Dhaenens, Claire-Marie , Stöhr, Heidi , Grassmann, Felix , Weber, Bernhard H. F. , Hoyng, Carel B. , De Baere, Elfride , Albert, Silvia , Collin, Rob W. J. and Cremers, Frans P. M.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive Stargardt disease (STGD1) as a model to identify the missing heritability.
Methods
Sequencing of
ABCA4
was performed in 8 STGD1 cases with one variant and p.Asn1868Ile in
tran...
Alternative Titles
Full title
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Authors, Artists and Contributors
Author / Creator
Garanto, Alejandro
Khan, Mubeen
Runhart, Esmee H.
Bauwens, Miriam
Bax, Nathalie M.
van den Born, L. Ingeborgh
Khan, Muhammad Imran
Cornelis, Stéphanie S.
Verheij, Joke B. G. M.
Pott, Jan-Willem R.
Thiadens, Alberta A. H. J.
Klaver, Caroline C. W.
Puech, Bernard
Meunier, Isabelle
Naessens, Sarah
Arno, Gavin
Fakin, Ana
Carss, Keren J.
Raymond, F. Lucy
Webster, Andrew R.
Dhaenens, Claire-Marie
Stöhr, Heidi
Grassmann, Felix
Weber, Bernhard H. F.
Hoyng, Carel B.
De Baere, Elfride
Albert, Silvia
Collin, Rob W. J.
Cremers, Frans P. M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_482787
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_482787
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0414-9
