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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2009-2-24
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pubmed:abstractText |
Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare syndrome characterized by chronic candidiasis, chronic hypoparathyroidism and Addison's disease. APECED has been associated with mutations in autoimmune regulator (AIRE) gene. Our aim is to perform a genetic analysis of the AIRE gene in Italian APECED patients and in their relatives. Design AIRE mutations were determined by DNA sequencing in all subjects. Patients were tested for clinical autoimmune or non-autoimmune diseases, or for organ and non-organ specific autoantibodies.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1365-2265
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pubmed:author |
pubmed-author:BetterleCorradoC,
pubmed-author:CervatoSaraS,
pubmed-author:De LucaFilippoF,
pubmed-author:GiordanoCarlaC,
pubmed-author:GiordanoRobertaR,
pubmed-author:LazzarottoFrancescaF,
pubmed-author:MarinielloBarbaraB,
pubmed-author:MorlinLucaL,
pubmed-author:RadettiGiorgioG,
pubmed-author:RizzoDanielaD,
pubmed-author:ValenziseMariellaM,
pubmed-author:ZanchettaRenatoR
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pubmed:issnType |
Electronic
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pubmed:volume |
70
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
421-8
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pubmed:meshHeading |
pubmed-meshheading:18616706-Addison Disease,
pubmed-meshheading:18616706-Adolescent,
pubmed-meshheading:18616706-Adult,
pubmed-meshheading:18616706-Aged,
pubmed-meshheading:18616706-Candidiasis,
pubmed-meshheading:18616706-Case-Control Studies,
pubmed-meshheading:18616706-Child,
pubmed-meshheading:18616706-Cohort Studies,
pubmed-meshheading:18616706-Female,
pubmed-meshheading:18616706-Heterozygote,
pubmed-meshheading:18616706-Homozygote,
pubmed-meshheading:18616706-Humans,
pubmed-meshheading:18616706-Hypoparathyroidism,
pubmed-meshheading:18616706-Italy,
pubmed-meshheading:18616706-Male,
pubmed-meshheading:18616706-Middle Aged,
pubmed-meshheading:18616706-Mutation,
pubmed-meshheading:18616706-Polyendocrinopathies, Autoimmune,
pubmed-meshheading:18616706-Transcription Factors,
pubmed-meshheading:18616706-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives.
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pubmed:affiliation |
Division of Endocrinology, Department of Medical and Surgical Sciences, University of Padua, Padua, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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