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

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

doi:10.1371/journal.pone.0101616

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Peer-reviewed

Research Article

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

Mireia Mora,

Affiliations Department of Endocrinology and Nutrition, Hospital Clinic, Barcelona, Spain, Laboratory of Endocrine Disorders, Institut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain, Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM), Barcelona, Spain
⨯
Felicia A. Hanzu,

Affiliations Department of Endocrinology and Nutrition, Hospital Clinic, Barcelona, Spain, Laboratory of Endocrine Disorders, Institut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain, Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM), Barcelona, Spain
⨯
Marta Pradas-Juni,

Affiliations Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM), Barcelona, Spain, Diabetes and Obesity Research Laboratory - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
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Gloria B. Aranda,

Affiliations Department of Endocrinology and Nutrition, Hospital Clinic, Barcelona, Spain, Laboratory of Endocrine Disorders, Institut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain, Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM), Barcelona, Spain
⨯
Irene Halperin,

Affiliations Department of Endocrinology and Nutrition, Hospital Clinic, Barcelona, Spain, Laboratory of Endocrine Disorders, Institut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain
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Manuel Puig-Domingo,

Affiliation Department of Endocrinology and Nutrition, Hospital Germans Trias i Pujol Research Institut and Hospital, Universitat Autònoma de Barcelona, Badalona, Spain
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Sira Aguiló,

Affiliation Department of Internal Medicine, Hospital Clínic, Barcelona, Spain
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Eduardo Fernández-Rebollo

* E-mail: edu.ferrebo@gmail.com

Affiliations Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM), Barcelona, Spain, Diabetes and Obesity Research Laboratory - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
⨯

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

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

Published: July 2, 2014
https://doi.org/10.1371/journal.pone.0101616

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Autoimmune polyendocrine syndrome type 1
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Mutation
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Introns
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Homozygosity
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Candidiasis
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DNA-binding proteins
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Nonsense mutation
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Protein structure prediction
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