Article

A <i>Dpagt1</i> Missense Variant Causes Early Degenerative Retinopathy without Myasthenic Syndrome in Mice

2022-08-04

Abstract excerpt

Congenital Disorders of Glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases caused by disruptions in the synthesis of lipid linked oligosaccha-rides and their transfer to proteins. CDGs affect multiple organ systems and vary in presentation, even within families. Here we describe a chemically induced mouse mutant, tvrm76, with early onset photoreceptor degeneration. The...

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Literature Corpus work: 4482c3df-49e8-54a0-b365-b918adb682ed
DOI: 10.20944/preprints202208.0106.v1

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