Two novelAIREmutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01280.x/fullpdf
Reference28 articles.
1. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.;The Finnish-German APECED Consortium;Nat Genet,1997
2. Positional cloning of the APECED gene;Nagamine;Nat Genet,1997
3. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;Perheentupa;J Clin Endocrinol Metab,2006
4. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene;Wolff;J Clin Endocrinol Metab,2007
5. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype;Halonen;J Clin Endocrinol Metab,2002
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1. Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants;Orphanet Journal of Rare Diseases;2022-01-06
2. Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report;BMC Endocrine Disorders;2021-08-03
3. Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence;Frontiers in Immunology;2021-02-26
4. Autoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients;Journal of Endocrinological Investigation;2020-08-07
5. Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study;Endocrine Connections;2017-07
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