Concepedia

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

Alessandra Maugeri, Marc A. van Driel, Dorien J.R. van de Pol, B. Jeroen Klevering, Frank J.J. van Haren, Nel Tijmes, Arthur A. Bergen, Klaus Rohrschneider, A. Blankenagel, A. Pinckers,

The American Journal of Human Genetics · 1999 · 259 citations · 28 references

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References

28

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

, , +19

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

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Xavier Estivill, Paolo Fortina, Saul Surrey et al. · The Lancet · 1998 · 642 citations · Full text

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Françoise Denoyelle, Dominique Weil, Marion A. Maw et al. · Human Molecular Genetics · 1997 · 635 citations · Full text

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