Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19
-
Altmetric Citations
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]
Collections | ANU Research Publications |
---|---|
Date published: | 2004 |
Type: | Journal article |
URI: | http://hdl.handle.net/1885/78035 |
Source: | Nature Genetics |
DOI: | 10.1038/ng1406 |
Download
Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.
Updated: 17 November 2022/ Responsible Officer: University Librarian/ Page Contact: Library Systems & Web Coordinator