Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 2, 2002, Pages 841-846

  Meloni, Alessandra ^a   Perniola, Roberto ^b   Faà, Valeria ^c   Corvaglia, Enrico ^a   Cao, Antonio ^a   Rosatelli, Maria Cristina ^a,d  

^a CNR   (Italy)

^b VITO FAZZI HOSPITAL   (Italy)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d Dipartimento di Scienze Biomediche E Biotecnologie   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOIMMUNE DISEASE; CANDIDIASIS; CLINICAL ARTICLE; DYSTROPHY; FEMALE; FOUNDER EFFECT; FRAMESHIFT MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ITALY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; REGULATOR GENE;

EID: 0036171124     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.2.8209     Document Type: Article

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