Article
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.
American journal of human genetics - 1 Dec 1998
Pearce S H, Cheetham T, Imrie H, Vaidya B, Barnes N D, Bilous R W, Carr D, Meeran K, Shaw N J, Smith C S, Toft A D, Williams G, Kendall-Taylor P
Abstract excerpt
Autoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterized by autoimmune hypoparathyroidism, autoimmune adrenocortical failure, and mucocutaneous candidiasis. Recently, an autoimmune regulator gene (AIRE-1), which is located on chromosome 21q22.3, has been identi...
Topics
- Alleles
- Base Sequence
- Chromosomes, Human, Pair 21
- Exons
- Female
- Founder Effect
- Genotype
- Haplotypes
- Humans
- Male
- Molecular Sequence Data
- Nuclear Family
- Pedigree
- Point Mutation
- Polyendocrinopathies, Autoimmune