A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration

American Journal of Human Genetics

Volumn 67, Issue 4, 2000, Pages 800-813

  Rivera, Andrea ^a   White, Karen ^a   Stöhr, Heidi ^a   Steiner, Klaus ^a   Hemmrich, Nadine ^a   Grimm, Timo ^a   Jurklies, Bernhard ^b   Lorenz, Birgit ^c   Scholl, Hendrik P N ^d   Apfelstedt Sylla, Eckhart ^d   Weber, Bernhard H F ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b Augenklinik   (Germany)

^c UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^d UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GERMANY; HUMAN; MAJOR CLINICAL STUDY; PATHOGENESIS; POPULATION RESEARCH; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; SEQUENCE ANALYSIS; STARGARDT DISEASE;

EID: 0033804333     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303090     Document Type: Article

References (38)

1. Further evidence for an association of ABCR alleles with age-related macular degeneration
2. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
3. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
4. An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiology Study Group
5. Age-related macular degeneration
6. Dominantly inherited macular dystrophy with flecks (Stargardt)
7. Proof of 'disease causing' mutation
8. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
9. ABCR gene and age-related macular degeneration
10. ABCR gene and age-related macular degeneration
11. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
12. Mutation detection by denaturing gradient gel electrophoresis (DGGE)
13. ABCR gene and age-related macular degeneration
14. Prevalence of age-related maculopathy. The Beaver Dam Eye Study
15. A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4
16. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
17. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene. ABCR in Stargardt disease
18. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
19. Intrafamilial variation of phenotype in Stargardt macular dystrophy - Fundus flavimaculatus
20. Autosomal-dominant fundus flavimaculatus: Clinicopathologic correlation
21. Long-term follow-up of dominant macular dystrophy with flecks (Stargardt)
22. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
23. The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
24. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy
25. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease
26. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
27. An analysis of ABCR mutations in British patients with recessive retinal dystrophies
28. Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks
29. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
30. New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease
31. ABCR gene analysis in familial exudative age-related macular degeneration
32. Uber familiare, progressive Degeneration in der Maculagegend des Auges
33. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q
34. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
35. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease
36. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
37. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
38. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34