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

Abstract excerpt

Stargardt disease, an autosomal recessive macular dystrophy of childhood, leading to severe visual impairment, is caused by mutations in the retina-specific ATP binding transporter gene (ABCR). Previously, the ABCR cDNA and part of the exon-intron structure were described. We have determined the...

Topics

• ATP-Binding Cassette Transporters
• Child
• DNA, Complementary
• Exons
• Humans
• Introns
• Macular Degeneration
• Molecular Sequence Data
• Mutation
• Polymerase Chain Reaction
• RNA Splicing
• Retina