Concepedia

Distinct Clinical Phenotype and Immunoreactivity in Japanese Siblings with Autoimmune Polyglandular Syndrome Type 1 (APS-1) Associated with Compound Heterozygous Novel AIRE Gene Mutations

Kazuhiko Kogawa, Jun Kudoh, Seiho Nagafuchi, Shouichi Ohga, Hitoshi Katsuta, Hiromi Ishibashi, Mine Harada, Toshiro Hara, Nobuyoshi Shimizu

Clinical Immunology · 2002 · 41 citations · 37 references

DOI

Concepts

References

37

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

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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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Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

Chris Ramsey · Human Molecular Genetics · 2002 · 462 citations · Full text

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An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

Johanna Aaltonen, Petra Björses, Lodewijk A. Sandkuijl et al. · Nature Genetics · 1994 · 381 citations · Full text

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