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Article

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Sept 2008

Fingert John H, Oh Kean, Chung Mina, Scheetz Todd E, Andorf Jeaneen L, Johnson Rebecca M, Sheffield Val C, Stone Edwin M

Abstract excerpt

OBJECTIVE: To identify the gene causing retinitis pigmentosa (RP) in an autosomal dominant pedigree. METHODS: Family members with RP were studied with linkage analysis using single-nucleotide polymorphism and short tandem repeat polymorphic markers. Candidate genes in the linked region were evaluated with DNA sequencing. RESULTS: Nineteen family members had a mild form of RP. Multipoint linkage analysis of...

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Source

Identifiers

PMID: 18779497
DOI: 10.1001/archopht.126.9.1301

Genes

RDH12

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.PMID 18779497Read ↗

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