Concepedia

ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation

Oscar F. Chacón‐Camacho, Mariella Granillo-Alvarez, Raúl Ayala-Ramírez, Juan Carlos Zenteno

Experimental Eye Research · 2013 · 42 citations · 34 references

DOI

Concepts

References

34

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 · 873 citations

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

F. P. M. Cremers · Human Molecular Genetics · 1998 · 552 citations

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

Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider et al. · The American Journal of Human Genetics · 2000 · 343 citations · Full text

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A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Andrea Rivera, Karen L. White, Heidi Stöhr et al. · The American Journal of Human Genetics · 2000 · 336 citations · Full text

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Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease

Richard A. Lewis, Noah F. Shroyer, Nanda Singh et al. · The American Journal of Human Genetics · 1999 · 299 citations · Full text

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