Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and...
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
About this item
Full title
Author / Creator
Haer-Wigman, Lonneke , den Ouden, Amber , van Genderen, Maria M. , Kroes, Hester Y. , Verheij, Joke , Smailhodzic, Dzenita , Hoekstra, Attje S. , Vijzelaar, Raymon , Blom, Jan , Derks, Ronny , Tjon-Pon-Fong, Menno , Yntema, Helger G. , Nelen, Marcel R. , Vissers, Lisenka E.L.M. , Lugtenberg, Dorien and Neveling, Kornelia
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Pathogenic variants in the
OPN1LW/OPN1MW
gene cluster are causal for a range of mild to severe visual impairments with color deficiencies. The widely utilized short-read next-generation sequencing (NGS) is inappropriate for the analysis of the
OPN1LW/OPN1MW
gene cluster and many patients with pathogenic variants stay underdiagnosed. A d...
Alternative Titles
Full title
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c712caf6e25c497db49ddbb9856c8f48
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c712caf6e25c497db49ddbb9856c8f48
Other Identifiers
ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-022-00334-9
