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Article

Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.

Investigative ophthalmology & visual science - 1 Jun 2002

Sharon Dror, Yamamoto Hiroyuki, McGee Terri L, Rabe Vivian, Szerencsei Robert T, Winkfein Robert J, Prinsen Clemens F M, Barnes Claire S, Andreasson Sten, Fishman Gerald A, Schnetkamp Paul P M, Berson Eliot L, Dryja Thaddeus P

Abstract excerpt

PURPOSE: To study the possible involvement of the rod (SLC24A1) and cone (SLC24A2) Na-Ca+K exchanger (NCKX) genes in retinal diseases. METHODS: DNA was collected from unrelated patients with retinal disease, mainly from North America. A human genomic library was screened with the cone NCKX cDNA, and hybridizing clones were sequenced to determine the genomic organization of the SLC24A2 gene. The single-strand...

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PMID: 12037007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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