Mutations in ABCC6 cause pseudoxanthoma elasticum

The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon.

Peter Leeds, Stuart W. Peltz, Allan Jacobson et al. · Genes & Development · 1991 · 502 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

Harry C. Dietz, David Valle, Clair A. Francomano et al. · Science · 1993 · 432 citations

Life Sciences, Genetics, Molecular Genetics +16

Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.

Marcel Kool, Mariëtta L. van der Linden, Marcel de Haas et al. · PubMed · 1999 · 365 citations

Medicine, Molecular Biology, Oncology +16

Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database

R Allikmets · Human Molecular Genetics · 1996 · 336 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

De-novo mutation in hereditary motor and sensory neuropathy type I

Jessica E. Hoogendijk, Gerard W. Hensels, Emiel A. M. Janssen et al. · The Lancet · 1992 · 162 citations

Life Sciences, Genetics, Neurology +16