A novel locus for Leber congenital amaurosis maps to chromosome 6q.

No abstract is available for this paper.

• Publication year

  2000

• Venue

  American Journal of Human Genetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1086/302719PMID 10631161PMCID PMC1288337
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

  1999cited by this paper
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  1998cited by this paper
• Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.

  1998cited by this paper
• Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q.

  1998cited by this paper
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  1998cited by this paper
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  1998cited by this paper
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  1998cited by this paper
• A novel locus for Leber congenital amaurosis on chromosome 14q24

  1998cited by this paper
• Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

  1998cited by this paper
• De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

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  1998cited by this paper
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  1998cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1954cited by this paper
• [Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia].

  1954cited by this paper

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  2023cites this paper
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