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Article

Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.

Human molecular genetics - 1 Apr 2007

Gould Douglas B, Marchant Jeffrey K, Savinova Olga V, Smith Richard S, John Simon W M

Abstract excerpt

Ocular anterior segment dysgenesis (ASD) is a complex and poorly understood group of conditions. A large proportion of individuals with ASD develop glaucoma, a leading cause of blindness resulting from retinal ganglion cell death. Optic nerve hypoplasia is thought to have distinct causes and is a...

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PMID: 17317786
DOI: 10.1093/hmg/ddm024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17317786-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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