Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation–Effect of an <i>ALG6</i> Modifier Variant

Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation–Effect of an <i>ALG6</i> Modifier Variant

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 g...

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Bibliographic Details
Main Authors: Elisha Monson, Artur V. Cideciyan, Alejandro J. Roman, Alexander Sumaroka, Malgorzata Swider, Vivian Wu, Iryna Viarbitskaya, Samuel G. Jacobson, Steven J. Fliesler, Steven J. Pittler
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:International Journal of Molecular Sciences
Subjects:
genetic modifier
retinitis pigmentosa
<i>DHDDS</i>
glycosylation
Online Access:https://www.mdpi.com/1422-0067/25/2/1004

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https://www.mdpi.com/1422-0067/25/2/1004

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