Concepedia

Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein

Petra Björses, Maria Halonen, Jorma J. Palvimo, Meelis Kolmer, Johanna Aaltonen, Pekka Ellonen, Jaakko Perheentupa, Ismo Ulmanen, Leena Peltonen

The American Journal of Human Genetics · 2000 · 361 citations · 32 references

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32

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

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A signature motif in transcriptional co-activators mediates binding to nuclear receptors

David M. Heery, Eric Kalkhoven, Susan Hoare et al. · Nature · 1997 · 2.1K citations

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A candidate gene for familial Mediterranean fever

Alain Bernot, Christian Clépet, Corinne Da Silva et al. · Nature Genetics · 1997 · 1.5K citations

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Positional cloning of the APECED gene

Kentaro Nagamine, Pärt Peterson, Hamish S. Scott et al. · Nature Genetics · 1997 · 1.4K citations

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An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

Johanna Aaltonen, Petra Björses, Jaakko Perheentupa et al. · Nature Genetics · 1997 · 1.2K citations

, , +14