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Functional analysis of ABCR mutations associated with Stargardt disease , retinitis pigmentosa and age-related macular degeneration


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



ISSN/ISBN: 0002-9297


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(PDF emailed within 1 workday: $29.90)

Accession: 034957706

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Related references

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

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Human Molecular Genetics 10(23): 2671-2678, 2001

Cosegregation of ABCR mutations in families which manifest Stargardt disease and age-related macular degeneration. IOVS Investigative Ophthalmology and Visual Science 40(4): S776, 1999

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

Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. Ophthalmology 106(8): 1531-1536, 1999

CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease. Ophthalmic Genetics 39(6): 699-705, 2018

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

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nature Genetics 20(4): 328-329, 1998

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

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Investigative Ophthalmology and Visual Science 42(10): 2229-2236, 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

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. American Journal of Human Genetics 67(4): 800-813, 2000

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature Genetics 18(1): 11-12, 1998

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

ABCR mutations in kindreds with Stargardts disease and age-related macular degeneration. IOVS Investigative Ophthalmology and Visual Science 39(4): S900, 1998