The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition
Identifieur interne : 000318 ( Ncbi/Curation ); précédent : 000317; suivant : 000319The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition
Auteurs : Stefan BröerSource :
- Iubmb Life [ 1521-6543 ] ; 2009.
Abstract
Hartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral amino acids accompanied by a variety of symptoms, such as a photo‐sensitive skin‐rash and cerebellar ataxia. The disorder is caused by mutations in the neutral amino acid transporter B0AT1 (SLC6A19)
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DOI: 10.1002/iub.210
PubMed: 19472175
PubMed Central: 7165679
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