Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.

Björses, P

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