The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons

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

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS

A. Cecil Alport · BMJ · 1927 · 666 citations · Full text

Medicine, Genetics, Nephrology +12

Construction of Human Gene Libraries from Small Amounts cf Peripheral Blood: Analysis of β-Like Globin Genes

Mortimer Poncz, D Solowiejczyk, Barbara M. Harpel et al. · Hemoglobin · 1982 · 571 citations

Life Sciences, Genetics, Molecular Genetics +13

Deletion of the Paired α5(IV) and α6(IV) Collagen Genes in Inherited Smooth Muscle Tumors

Jing Zhou, Toshio Mochizuki, Hubert J.M. Smeets et al. · Science · 1993 · 298 citations

Life Sciences, Genetics, Molecular Genetics +16