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Retinal Phenotyping of a Murine Model of Lafora Disease

Retinal Phenotyping of a Murine Model of Lafora Disease

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10137594

Retinal Phenotyping of a Murine Model of Lafora Disease

About this item

Full title

Retinal Phenotyping of a Murine Model of Lafora Disease

Publisher

Switzerland: MDPI AG

Journal title

Genes, 2023-03, Vol.14 (4), p.854

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

Lafora disease (LD) is a progressive neurologic disorder caused by biallelic pathogenic variants in EPM2A or EPM2B, leading to tissue accumulation of polyglucosan aggregates termed Lafora bodies (LBs). This study aimed to characterize the retinal phenotype in Epm2a−/− mice by examining knockout (KO; Epm2a−/−) and control (WT) littermates at two tim...

Alternative Titles

Full title

Retinal Phenotyping of a Murine Model of Lafora Disease

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10137594

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10137594

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes14040854

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