A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

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

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

Angela Brooks‐Wilson, Michel Marcil, Susanne M. Clee et al. · Nature Genetics · 1999 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +14

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Stephan Rust, Marie Rosier, Harald Funke et al. · Nature Genetics · 1999 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +9

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

Sandra Strautnieks, Laura N. Bull, Alexander S. Knisely et al. · Nature Genetics · 1998 · 999 citations

Medicine, Genetics, Molecular Genetics +13