Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. [electronic resource]
- American journal of human genetics Feb 2000
- 378-92 p. digital
Publication Type: Journal Article
0002-9297
10.1086/302765 doi
Alleles Animals Biological Transport Cell Line Codon, Nonsense--genetics Cytoplasm--metabolism Ethnicity--genetics Exons--genetics Female Genes, Reporter--genetics Haplotypes--genetics Humans Immunohistochemistry Male Molecular Sequence Data Mutation--genetics Mutation, Missense--genetics Polyendocrinopathies, Autoimmune--genetics Polymorphism, Single-Stranded Conformational Recombinant Fusion Proteins--chemistry Transcription Factors--chemistry Transcriptional Activation--genetics AIRE Protein