TY - GEN AU - Björses,P AU - Halonen,M AU - Palvimo,J J AU - Kolmer,M AU - Aaltonen,J AU - Ellonen,P AU - Perheentupa,J AU - Ulmanen,I AU - Peltonen,L TI - Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein SN - 0002-9297 PY - 2000///0330 KW - Alleles KW - Animals KW - Biological Transport KW - Cell Line KW - Codon, Nonsense KW - genetics KW - Cytoplasm KW - metabolism KW - Ethnicity KW - Exons KW - Female KW - Genes, Reporter KW - Haplotypes KW - Humans KW - Immunohistochemistry KW - Male KW - Molecular Sequence Data KW - Mutation KW - Mutation, Missense KW - Polyendocrinopathies, Autoimmune KW - Polymorphism, Single-Stranded Conformational KW - Recombinant Fusion Proteins KW - chemistry KW - Transcription Factors KW - Transcriptional Activation KW - AIRE Protein N1 - Publication Type: Journal Article UR - https://doi.org/10.1086/302765 ER -