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Article

Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.

Ophthalmic genetics - 1 Sept 2005

Schatz Patrik, Ponjavic Vesna, Andréasson Sten, McGee Terri L, Dryja Thaddeus P, Abrahamson Magnus

Abstract excerpt

PURPOSE: Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) have recently been discovered to cause a form of autosomal dominant retinitis pigmentosa (adRP). Such mutations are estimated to account for approximately 2-5% of the adRP cases among Americans of European origin and Europeans. Aiming towards an understanding of the molecular background of retinitis pigmentosa, this paper describes the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16272056
DOI: 10.1080/13816810500229090

Genes

IMPDH1
ERG

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.

Related research

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Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.PMID 16272056Read ↗

IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.Semantic proximity Read ↗

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IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.Semantic proximity Read ↗

IMP dehydrogenase-linked retinitis pigmentosa.Semantic proximity Read ↗

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.Semantic proximity Read ↗

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