Concepedia

Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider, A. Blankenagel, Han G. Brunner, August F. Deutman, Carel B. Hoyng, Frans P.M. Cremers

The American Journal of Human Genetics · 2000 · 345 citations · 23 references

DOIFull text

Open access

Concepts

References

23

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

, , +13

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

, , +13

Insights into the Function of Rim Protein in Photoreceptors and Etiology of Stargardt's Disease from the Phenotype in abcr Knockout Mice

Jian Weng, Nathan L. Mata, Sassan M. Azarian et al. · Cell · 1999 · 882 citations · Full text

, , +14

Mutation of the Stargardt Disease Gene ( <i>ABCR</i> ) in Age-Related Macular Degeneration

Rando Allikmets, Noah F. Shroyer, Nanda Singh et al. · Science · 1997 · 878 citations

, , +17

Identification of the gene responsible for Best macular dystrophy

Konstantin Petrukhin, Markus J. Koisti, Benjamin Bakall et al. · Nature Genetics · 1998 · 686 citations

, , +12