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Further Evidence for Allelic Heterogeneity in Hartnup Disorder

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

Description

Hartnup disorder is an autosomal recessive impairment of amino acid transport in kidney and intestine. Mutations in SLC6A19 have been shown to cosegregate with the disease in the predicted recessive manner; however, in two previous studies (Seow et al., Nat Genet 2004;36:1003-1007; Kleta et al., Nat Genet 2004;36:999-1002), not all causative alleles were identified in all affected individuals, raising the possibility that other genes may contribute to Hartnup disorder. We have now investigated...[Show more]

CollectionsANU Research Publications
Date published: 2008
Type: Journal article
URI: http://hdl.handle.net/1885/32951
Source: Human Mutation
DOI: 10.1002/humu.20777

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