Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypes

Gene

Volumn 499, Issue 2, 2012, Pages 343-346

  Valenzise, Mariella ^a   Wasniewska, Malgorzata ^a   Mirabelli, Silvestro ^a   De Luca, Filippo ^a   Cervato, Sara ^b   Betterle, Corrado ^b  

^a UNIVERSITY OF MESSINA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

AIRE gene; APECED; Novel mutations

Indexed keywords

AROMATIC LEVO AMINO ACID DECARBOXYLASE; AUTOIMMUNE REGULATOR PROTEIN; GAMMA INTERFERON; R203X PROTEIN; THYROGLOBULIN ANTIBODY; TRYPTOPHAN HYDROXYLASE; UNCLASSIFIED DRUG;

ALOPECIA AREATA; ANTIBODY SCREENING; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CASE REPORT; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPOPARATHYROIDISM; ITALY; MOTHER; ONYCHOMYCOSIS; PRIORITY JOURNAL;

DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ITALY; MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; TRANSCRIPTION FACTORS;

EID: 84860249721     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.03.032     Document Type: Article

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