title: A novel mutation associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
authors.forename: Ravinder Dennis
authors.initials: RD
authors.lastname: Bhui
authors.forename: David B
authors.initials: DB
authors.lastname: Lewis
authors.forename: Karl C
authors.initials: KC
authors.lastname: Nadeau
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D054353:Perforin; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis / Q000235:genetics*; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000096927:AIRE Protein
chemical_list: D018389:Codon, Nonsense; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins; D014157:Transcription Factors; D000096927:AIRE Protein; C510468:PRF1 protein, human