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Article

A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1).

Advances in experimental medicine and biology - 1 Jan 2016

Boye Shannon E

Abstract excerpt

GUCY2D encodes retinal guanylate cylase-1 (retGC1), a protein that plays a pivotal role in the recovery phase of phototransduction. Mutations in GUCY2D are associated with a leading cause of recessive Leber congenital amaurosis (LCA1). Patients present within the first year of life with aberrant or unrecordable electroretinogram (ERG), nystagmus and a relatively normal fundus. Aside from abnormalities in the...

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Identifiers

PMID: 26427419
DOI: 10.1007/978-3-319-17121-0_34

Genes

ERG

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