Article
Genetic homogeneity of autoimmune polyglandular disease type I.
American journal of human genetics - 1 Oct 1996
Björses P, Aaltonen J, Vikman A, Perheentupa J, Ben-Zion G, Chiumello G, Dahl N, Heideman P, Hoorweg-Nijman J J, Mathivon L, Mullis P E, Pohl M, Ritzen M, Romeo G, Shapiro M S, Smith C S, Solyom J, Zlotogora J, Peltonen L
Abstract excerpt
Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease (MIM 240300) characterized by hypoparathyroidism, primary adrenocortical failure, and chronic mucocutaneous candidiasis. The disease is highly prevalent in two isolated populations, the Finnish populatio...
Topics
- Alleles
- Chromosome Mapping
- Chromosomes, Human, Pair 21
- Female
- Finland
- Genetic Linkage
- Haploidy
- Humans
- Linkage Disequilibrium
- Lod Score
- Male
- Microsatellite Repeats
- Pedigree
- Polyendocrinopathies, Autoimmune