Estimating the age of rare disease mutations: the example of Triple-A syndrome

Abstract excerpt

Triple-A syndrome (MIM 231550) is an autosomal recessive disorder characterised by adrenocorticotrophin hormone resistant adrenal insufficiency, achalasia of the oesophageal cardia, and alacrima.1 The gene, previously localised to chromosome 12q13,2,3 was recently identified and denoted as AAAS .4 Among the five homozygous truncating mutations that were characterised, a single splice donor splice mutation...

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