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Article

ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.

Human genetics - 1 Nov 2020

Zhou Gao-Hui, Ma Yue, Li Meng-Lan, Zhou Xin-Yi, Mou Hao, Jin Zi-Bing

Abstract excerpt

Cone-rod dystrophy (CORD) is an inherited retinal degenerative disease characterized by progressive loss of cone and rod photoreceptors. Although several genes have been reported to cause autosomal dominant CORD (adCORD), the genetic causes of adCORD have not been fully elucidated. Here, we identified the ATP1A3 gene, encoding the α3 subunit of Na+, K+-ATPase, as a novel gene associated with adCORD. Using...

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Identifiers

PMID: 32440726
DOI: 10.1007/s00439-020-02182-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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