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Article

Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.

Ophthalmic genetics - 1 Sept 2011

Kitiratschky Veronique B D, Glöckner Christian Johannes, Kohl Susanne

Abstract excerpt

BACKGROUND: Heterozygous mutations in GUCA1A (MIM # 600364) have been identified to cause autosomal dominantly inherited cone dystrophy, cone rod dystrophy and macular dystrophy. However, the role of GUCA1B gene mutations in inherited retinal disease has been controversial. We therefore performed a mutation analysis of the GUCA1B gene in a clinically well characterized group of patients of European and...

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PMID: 21405999
DOI: 10.3109/13816810.2011.559650

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

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