Ehlers-Danlos syndrome type VII: phenotype and genotype

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.3K citations · Full text

Life Sciences, Microbiology, Molecular Biology +10

Supercoil Sequencing: A Fast and Simple Method for Sequencing Plasmid DNA

Ellson Y. Chen, Peter H. Seeburg · DNA · 1985 · 2.5K citations

Life Sciences, Microbiology, Molecular Biology +14

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

David F. Barker, Sirkka Liisa Hostikka, Jing Zhou et al. · Science · 1990 · 881 citations

Medicine, Genetics, Molecular Genetics +17

International nosology of heritable disorders of connective tissue, Berlin, 1986

Peter Beighton, A. De Paepe, D. M. Danks et al. · American Journal of Medical Genetics · 1988 · 733 citations

Medicine, Genetics, Genodermatoses +13

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

Andreas Winterpacht, Matthias Hilbert, Ulrike Schwarze et al. · Nature Genetics · 1993 · 187 citations

Medicine, Genetics, Molecular Genetics +14