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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


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



ISSN/ISBN: 0002-9297


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Accession: 032158826

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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

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

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

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

From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa. Nederlands Tijdschrift Voor Geneeskunde 146(34): 1581-1584, 2002

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Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19). Klinische Monatsblatter für Augenheilkunde 219(8): 590-596, 2002

Dominantly inherited retinitis pigmentosa. Ultrastructure and biochemical analysis. Ophthalmology 92(8): 1165-1172, 1985

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