A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

doi:10.1007/s004390050846

Article

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

Human genetics - 1 Oct 1998

Rosatelli M C, Meloni A, Meloni A, Devoto M, Cao A, Scott H S, Peterson P, Heino M, Krohn K J, Nagamine K, Kudoh J, Shimizu N, Antonarakis S E

Abstract excerpt

Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED; also called APS-1,) is a rare autosomal recessive disorder that is more frequent in certain isolated populations. It is characterized by two of the three major clinical symptoms that may be present: Addison's disease, and/or h...

Topics

DNA Mutational Analysis
Female
Haplotypes
Humans
Italy
Linkage Disequilibrium
Male
Mutation
Pedigree
Polyendocrinopathies, Autoimmune

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