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Article

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

1 Jan 2001

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 11138005
DOI: 10.1038/83817

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Related research

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Click a neighbor to travelStep 1 · 12 closest

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophyPMID 11138005Read ↗

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.Semantic proximity Read ↗

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.Semantic proximity Read ↗

Elovl4 haploinsufficiency does not induce early onset retinal degeneration in miceSemantic proximity Read ↗

Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene.Semantic proximity Read ↗

Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expressionSemantic proximity Read ↗

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.Semantic proximity Read ↗

Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.Semantic proximity Read ↗

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.Semantic proximity Read ↗

Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?Semantic proximity Read ↗

Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks.Semantic proximity Read ↗

Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.Semantic proximity Read ↗

Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.Semantic proximity Read ↗

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