New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1-Reference-Cited by-同舟云学术

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New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1

Published:2014-07-02 Issue:7 Volume:9 Page:e101616
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Mora Mireia,Hanzu Felicia A.,Pradas-Juni Marta,Aranda Gloria B.,Halperin Irene,Puig-Domingo Manuel,Aguiló Sira,Fernández-Rebollo Eduardo

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference38 articles.

1. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;J Perheentupa;J Clin Endocrinol Metab,2006

2. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?;F Buzi;J Clin Endocrinol Metab,2003

3. Autoimmune polyglandular syndromes;AW Michels;Nat Rev Endocrinol,2010

4. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype;M Halonen;J Clin Endocrinol Metab,2002

5. High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH;J Aaltonen;Genome Res,1997

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Polymorphisms in Exon 5 and Intron 5 and 7 of AIRE Are Associated with Rheumatoid Arthritis Risk in a Hungarian Population;Biology;2024-06-15

2. Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort;The Journal of Clinical Endocrinology & Metabolism;2024-04-12

3. Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis;Heliyon;2024-03

4. A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1;Journal of Clinical Investigation;2023-11-01

5. RNA metabolism and links to inflammatory regulation and disease;Cellular and Molecular Life Sciences;2021-12-31

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