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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR


Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR



Nature Genetics 18(1): 11-12



ISSN/ISBN: 1061-4036

PMID: 9425888

DOI: 10.1038/ng0198-11


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(PDF emailed within 0-6 h: $19.90)

Accession: 072466739

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Related references

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Human Molecular Genetics 7(3): 355-362, 1998

A mutation spectrum revealed by sequencing and southern analysis of ABCR in families with Stargardt disease, retinitis pigmentosa and age-related macular degeneration. IOVS Investigative Ophthalmology and Visual Science 41(4): S143, 2000

Linkage analysis in a family with pseudo-dominantly inherited cone-rod dystrophy and retinitis pigmentosa suggests that the defects reside in the Stargardt disease gene ABCR. American Journal of Human Genetics 61(4 Suppl): A330, 1997

Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. IOVS Investigative Ophthalmology and Visual Science 42(12): 2757-2761, 2001

Functional analysis of ABCR mutations associated with Stargardt disease , retinitis pigmentosa and age-related macular degeneration. American Journal of Human Genetics 69(4 Suppl): 212, 2001

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. Journal of Medical Genetics 36(6): 447-451, 1999

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. American Journal of Human Genetics 64(4): 1024-1035, 1999

The 2588GfwdarwC mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. American Journal of Human Genetics 64(4): 1024-1035, 1999

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. European Journal of Human Genetics: Ejhg 12(12): 1024-1032, 2004

The frequent identification of a mild ABCR mutation in European Stargardt disease patients allows the classification of ABCR mutations. IOVS Investigative Ophthalmology and Visual Science 40(4): S470, 1999

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277(5333): 1805-1807, 1997

Mutation analysis of the ABCR gene in Italian patients with Stargardt disease. IOVS Investigative Ophthalmology and Visual Science 41(4): S143, 2000

A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. American Journal of Ophthalmology 128(6): 720-724, 1999

Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation. Journal of Neurology Neurosurgery and Psychiatry 91(2): 220-222, 2020

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. International Journal of Molecular Medicine 37(6): 1528-1534, 2016