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Article

Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.

International journal of molecular sciences - 13 Jan 2024

Monson Elisha, Cideciyan Artur V, Roman Alejandro J, Sumaroka Alexander, Swider Malgorzata, Wu Vivian, Viarbitskaya Iryna, Jacobson Samuel G, Fliesler Steven J, Pittler Steven J

Abstract excerpt

Modern advances in disease genetics have uncovered numerous modifier genes that play a role in the severity of disease expression. One such class of genetic conditions is known as inherited retinal degenerations (IRDs), a collection of retinal degenerative disorders caused by mutations in over 300 genes. A single missense mutation (K42E) in the gene encoding the enzyme dehydrodolichyl diphosphate synthase...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38256083
DOI: 10.3390/ijms25021004
PMCID: PMC10816542

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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