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A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association.

Abstract:

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autoimmune disease with endocrine components including type 1 diabetes, adrenal failure, and thyroid dysfunction, with major autoantibodies directed against adrenal, pancreas, and thyroid tissue. A 13-bp deletion in exon 8 of the autoimmune regulator (AIRE1) gene on chromosome 21q22.3 accounts for more than 70% of mutant alleles in United Kingdom subjects with APECED. To determine whether this polymorp...

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Publisher copy:
10.1210/jc.85.3.1320

Authors


Nithiyananthan, R More by this author
Heward, JM More by this author
Allahabadia, A More by this author
Barnett, AH More by this author
Franklyn, JA More by this author
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Journal:
The Journal of clinical endocrinology and metabolism
Volume:
85
Issue:
3
Pages:
1320-1322
Publication date:
2000-03-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:b64762e1-d5d4-4fdc-8669-352390390a85
Source identifiers:
176289
Local pid:
pubs:176289

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