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Article

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

American journal of human genetics - 15 Jul 2011

Sergouniotis Panagiotis I, Davidson Alice E, Mackay Donna S, Li Zheng, Yang Xu, Plagnol Vincent, Moore Anthony T, Webster Andrew R

Abstract excerpt

Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), comprise a group of disorders showing high genetic and allelic heterogeneity. The determination of a full catalog of genes that can, when mutated, cause human retinal disease is a powerful m...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21763485
DOI: 10.1016/j.ajhg.2011.06.002
PMCID: PMC3135807

Genes

KCNJ13

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21763485-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.PMID 21763485Read ↗

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