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The molecular basis of neutral aminoacidurias

Broer, Angelika; Cavanaugh, Juleen; Rasko, John Edward; Broer, Stefan

Description

Recent success in the molecular cloning and identification of apical neutral amino acid transporters has shed a new light on inherited neutral amino acidurias, such as Hartnup disorder and Iminoglycinuria. Hartnup disorder is caused by mutations in the neutral amino acid transporter B0 AT1 (SLC6A19). The transporter is found in kidney and intestine, where it is involved in the resorption of all neutral amino acids. The molecular defect underlying Iminoglycinuria has not yet been identified....[Show more]

CollectionsANU Research Publications
Date published: 2006
Type: Journal article
URI: http://hdl.handle.net/1885/81813
Source: Pflugers Archives European Journal of Physiology
DOI: 10.1007/s00424-005-1481-8

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