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Article

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Jun 2008

Avila-Fernandez Almudena, Riveiro-Alvarez Rosa, Vallespin Elena, Wilke Robert, Tapias Ignacio, Cantalapiedra Diego, Aguirre-Lamban Jana, Gimenez Ascension, Trujillo-Tiebas Maria-Jose, Ayuso Carmen

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous group of inherited retinopathies. Up to now, 39 genes and loci have been implicated in nonsyndromic RP, yet the genetic bases of >50% of the cases, particularly of the recessive forms, remain unknown. A novel gene (CERKL) has been described as associated with RP26. It encodes a ceramide kinase that is assumed to be involved in sphingolipid-mediated...

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Source

Identifiers

PMID: 18515597
DOI: 10.1167/iovs.07-0865

Genes

CERKL

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.PMID 18515597Read ↗

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