Concepedia

A clinical molecular genetic service for United Kingdom families with choroideraemia

Simon Ramsden, Anna O’Grady, Tracy Fletcher, James O’Sullivan, Nikki Hart-Holden, Stephanie Barton, Georgina Hall, Anthony T. Moore, Andrew R. Webster, Graeme C. Black

European Journal of Medical Genetics · 2013 · 20 citations · 24 references

DOI

Concepts

References

24

Amino Acid Difference Formula to Help Explain Protein Evolution

Richard Grantham · Science · 1974 · 2.4K citations

, , +17

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

James Bainbridge, Alexander J. Smith, Susie S. Barker et al. · New England Journal of Medicine · 2008 · 1.9K citations · Full text

, , +15

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

Albert M. Maguire, Katherine A. High, Alberto Auricchio et al. · The Lancet · 2009 · 858 citations

, , +12

Retinal Degeneration in Choroideremia: Deficiency of Rab Geranylgeranyl Transferase

Miguel C. Seabra, Michael S. Brown, Joseph L. Goldstein · Science · 1993 · 336 citations

, , +17

Cloning of a gene that is rearranged in patients with choroideraemia

Frans P.M. Cremers, Dorien J.R. van de Pol, Liesbeth P. M. van Kerkhoff et al. · Nature · 1990 · 334 citations

, , +9