Autoimmune Regulator-1 Messenger Ribonucleic Acid Analysis in a Novel Intronic Mutation and Two Additional NovelAIREGene Mutations in a Cohort of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients | Zendy

Katarina Trebušak Podkrajšek | Zendy; Nina Bratanič | Zendy; Ciril Kržišnik | Zendy; Tadej Battelino | Zendy

Open Access

Autoimmune Regulator-1 Messenger Ribonucleic Acid Analysis in a Novel Intronic Mutation and Two Additional NovelAIREGene Mutations in a Cohort of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients

Author(s) -

Katarina Trebušak Podkrajšek,

Nina Bratanič,

Ciril Kržišnik,

Tadej Battelino

Publication year - 2005

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2005-0418

Subject(s) - genetics , autoimmune regulator , mutation , biology , exon , frameshift mutation , chronic mucocutaneous candidiasis , gene , mutation testing , medicine , disease , transcription factor

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease associated with mutations in the AIRE gene.

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