The medaka alg2 mutant is a model for hypo-N-glycosylation-associated retinitis pigmentosa
The medaka alg2 mutant is a model for hypo-N-glycosylation-associated retinitis pigmentosa
About this item
Full title
Author / Creator
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
Formats
Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Subjects
More information
Scope and Contents
Contents
Patients suffering from Congenital Disorders of Glycosylation (CDG) carry mutations in components of the evolutionarily highly conserved protein-glycosylation-machinery. Employing targeted genome editing, we modeled alleles in medaka fish based on a mutation described in an ALG2-index patient. The multisystemic phenotypes in our alg2 model closely...
Alternative Titles
Full title
The medaka alg2 mutant is a model for hypo-N-glycosylation-associated retinitis pigmentosa
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2436702575
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2436702575
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/2020.08.20.260430
How to access this item
https://www.proquest.com/docview/2436702575?pq-origsite=primo&accountid=13902
