Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

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

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel

Richard A. Shimkets, David G. Warnock, Christopher M. Bositis et al. · Cell · 1994 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +15

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

Su'e Chang, Stefan Gründer, Aaron Hanukoglu et al. · Nature Genetics · 1996 · 814 citations

Medicine, Molecular Genetics, Physiology +15

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

Joni H. Hansson, Laurent Schild, Yin Lu et al. · Proceedings of the National Academy of Sciences · 1995 · 366 citations

Natural Sciences, Genetics, Molecular Genetics +17