Open AccessDelineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy
Author(s) -
Alessandra Meloni
Publication year - 2002
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.87.2.841
Subject(s) - missense mutation , nonsense mutation , proband , ectodermal dysplasia , compound heterozygosity , autoimmune regulator , frameshift mutation , genetics , dystrophy , mutation , loss of heterozygosity , nonsense , biology , allele , gene , autoimmune disease , medicine , immunology , antibody
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