Retinal Dystrophy of Swedish Briard/Briard–Beagle Dogs Is Due to a 4-bp Deletion inRPE65

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer.

Michael A. Frohman, Michael Dush, Gail R. Martin · Proceedings of the National Academy of Sciences · 1988 · 4.6K citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +13

‘Touchdown’ PCR to circumvent spurious priming during gene amplification

R.H. Don, Peter Cox, Brandon J. Wainwright et al. · Nucleic Acids Research · 1991 · 2.6K citations · Full text

Life Sciences, Biotechnology, Molecular Biology +7

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle

T. Michael Redmond, Shirley Yu, Eric Lee et al. · Nature Genetics · 1998 · 930 citations

Medicine, Ophthalmology, Vision Science +10

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

Sumin Gu, Debra A. Thompson, C.R. Srikumari et al. · Nature Genetics · 1997 · 666 citations

Medicine, Genetics, Molecular Genetics +10

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis

Hiroyuki Morimura, Gerald A. Fishman, Sandeep Grover et al. · Proceedings of the National Academy of Sciences · 1998 · 489 citations

Medicine, Genetics, Molecular Genetics +15