Concepedia

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

Johanna Aaltonen, Petra Björses, Jaakko Perheentupa, Nina Horelli‐Kuitunen, Aarno Palotie, Leena Peltonen, Yeon Su Lee, Fiona Francis, Steffen Henning, Cora S. Thiel,

Nature Genetics · 1997 · 1.2K citations · 27 references

DOI

Concepts

References

27

Basic local alignment search tool

Stephen F. Altschul, Warren Gish, Webb Miller et al. · Journal of Molecular Biology · 1990 · 94.5K citations

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A catalogue of splice junction sequences

Stephen M. Mount · Nucleic Acids Research · 1982 · 3.9K citations · Full text

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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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Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

Galen H. Fisher, Fredric J Rosenberg, Stephen E. Straus et al. · Cell · 1995 · 1.5K citations · Full text

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Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients

Pekka Ahonen, S Myllärniemi, Ilkka Sipilä et al. · New England Journal of Medicine · 1990 · 1.1K citations · Full text

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