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Items: 4

Select item 70329561.

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

Kanmin Xue, Jasleen K Jolly, Alun R Barnard, Anna Rudenko, Anna P Salvetti, Maria I Patrício, Thomas L Edwards, Markus Groppe, Harry O Orlans, Tanya Tolmachova, Graeme C Black, Andrew R Webster, Andrew J Lotery, Graham E Holder, Susan M Downes, Miguel C Seabra, Robert E MacLaren

Nat Med. Author manuscript; available in PMC 2020 Feb 20.

Published in final edited form as: Nat Med. 2018 Oct 1; 24(10): 1507–1512. Published online 2018 Oct 8. doi: 10.1038/s41591-018-0185-5

PMCID:: PMC7032956

Abstract Article PDF–1.5M

Select item 16825532.

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing

J. A. J. M. van den Hurk, T. J. R. van de Pol, C. M. Molloy, F. Brunsmann, K. Rüther, E. Zrenner, A. J. L. G. Pinckers, I. H. Pawlowitzki, E. M. Bleeker-Wagemakers, B. Wieringa, H. -H. Ropers, F. P. M. Cremers

Am J Hum Genet. 1992 Jun; 50(6): 1195–1202.