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Persistence of the Common Hartnup disease D173N Allele in populations of European origin

Azmanov, Dimitar; Rodgers, Helen; Auray-Blais, Christiane; Giguere, Robert; Bailey, Charles; Broer, Stefan; Rasko, John Edward; Cavanaugh, Juleen


Hartnup disorder is an aminoaciduria that results from mutations in the recently described gene SLC6A19 on chromosome 5p15.33. The disease is inherited in a simple recessive manner and ten different mutations have been described to date. One mutation, the D173N allele, is present in 42% of Hartnup chromosomes from apparently unrelated families from both Australia and North America. We report an investigation of the origins of the D173N allele using a unique combination of variants including...[Show more]

CollectionsANU Research Publications
Date published: 2007
Type: Journal article
Source: Annals of Human Genetics
DOI: 10.1111/j.1469-1809.2007.00375.x


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