Macular degeneration: The emerging genetics

Hospital Practice

Volumn 35, Issue 6, 2000, Pages 41-58

  Lewis, Richard Alan ^a,b   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Psychiatry   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE ISOLATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; INHERITANCE; MOLECULAR BIOLOGY; MUTATION RATE; RETINA MACULA AGE RELATED DEGENERATION; REVIEW;

ATP-BINDING CASSETTE TRANSPORTERS; GENOTYPE; HUMANS; MACULAR DEGENERATION; MODELS, GENETIC; PHENOTYPE;

EID: 0034659396     PISSN: 87502836     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (5)

1. Allikmets R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy Nat Genet 17:122, 1997
2. Allikmets R et al, Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805, 1997
3. Lewis RA et al. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet 64:422, 1999
4. Sun H, Molday RS, Nathans J. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem 274:8269, 1999
5. Weng J et al. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 98:13, 1999