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Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19

Seow, Heng; Broer, Stefan; Broer, Angelika; Bailey, Charles; Potter, Simon; Cavanaugh, Juleen; Rasko, John Edward

Description

Hartnup disorder (OMIM 234500) is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. We localized a gene causing Hartnup disorder to chromosome 5p15.33 and cloned a new gene, SLC6A19, in this region. SLC6A19 is a sodium-dependent and chloride-independent neutral amino acid transporter, expressed predominately in kidney and intestine, with properties of system B0. We identified six mutations in SLC6A19 that...[Show more]

CollectionsANU Research Publications
Date published: 2004
Type: Journal article
URI: http://hdl.handle.net/1885/78035
Source: Nature Genetics
DOI: 10.1038/ng1406

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