A novel mutation associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Bhui
Ravinder Dennis
RD
Lewis
David B
DB
Nadeau
Karl C
KC
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
D018389:Codon, Nonsense; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins; D014157:Transcription Factors; D000096927:AIRE Protein; C510468:PRF1 protein, human