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Article

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jun 2003

Fishman Gerald A, Stone Edwin M, Eliason David A, Taylor Chris M, Lindeman Martin, Derlacki Deborah J

Abstract excerpt

OBJECTIVE: To identify sequence variations in the ABCA4 gene in a cohort of patients with autosomal recessive cone-rod dystrophy. METHODS: The coding sequences of the ABCA4 gene were analyzed in 30 unrelated probands. In those patients with plausible disease-causing variations, correlations were made between genotype and fundus phenotype as well as with electrophysiological and visual field findings. RESULTS:...

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Share to ATP-Binding Cassette Transporters
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12796258
DOI: 10.1001/archopht.121.6.851

Genes

ABCA4

Provenance

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