Article
Mutation analyses of North American APS-1 patients.
Human mutation - 1 Jan 1999
Heino M, Scott H S, Chen Q, Peterson P, Mäebpää U, Papasavvas M P, Mittaz L, Barras C, Rossier C, Chrousos G P, Stratakis C A, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis S E, Krohn K
Abstract excerpt
Autoimmune polyendocrinopathy syndrome type 1 (APS-1; MIM# 240300) is a rare autosomal recessively inherited disease characterised by destructive autoimmune diseases of endocrine glands. The gene responsible for APS-1, known as AIRE (for autoimmune regulator), was recently identified and contains...
Topics
- DNA Mutational Analysis
- Female
- Gene Deletion
- Genotype
- Haploidy
- Humans
- Male
- North America
- Phenotype
- Polyendocrinopathies, Autoimmune
- Sequence Deletion
- Transcription Factors
- AIRE Protein