Article
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Molecular endocrinology (Baltimore, Md.) - 1 Aug 1998
Scott H S, Heino M, Peterson P, Mittaz L, Lalioti M D, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas M P, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn K J, Antonarakis S E
Abstract excerpt
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; OMIM *240300, also called APS 1,) is a rare autosomal recessive disorder that is more frequent in certain isolated populations. It is generally characterized by two of the three major clinical symptoms that may be present, Ad...
Topics
- Female
- Haplotypes
- Humans
- Italy
- Male
- Mutation
- Polyendocrinopathies, Autoimmune
- Polymorphism, Genetic