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Article

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.

Ophthalmic genetics - 1 Sept 2010

Köhn Linda, Kohl Susanne, Bowne Sara J, Sullivan Lori S, Kellner Ulrich, Daiger Stephen P, Sandgren Ola, Golovleva Irina

Abstract excerpt

The first mutation in PITPNM3, a human homologue of the Drosophila retinal degeneration (rdgB not not) gene was reported in two large Swedish families with autosomal dominant cone dystrophy. To establish the global impact that PITPNM3 has on retinal degenerations we screened 163 patients from Denmark, Germany, the UK, and USA. Four sequence variants, two missence mutations and two intronic changes were identified...

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Share to Calcium-Binding Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Photoreceptor Cells, Vertebrate

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Source

Open in PubMed Open full text

Identifiers

PMID: 20590364
DOI: 10.3109/13816810.2010.486776
PMCID: PMC4096809

Genes

PITPNM3

Provenance

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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PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.PMID 20590364Read ↗

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