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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

✍ Scribed by Romeo, Elisa; Ristic, Zorica; Ohura, Toshihiro; Stuart, Caroline; Arcos-Burgos, Mauricio; Dave, Mital H; Wagner, Carsten A; Camargo, Simone R M; Inoue, Sumiko; Kleta, Robert

Book ID
109919028
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
361 KB
Volume
36
Category
Article
ISSN
1061-4036

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The role of the neutral amino acid trans
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition
✍ Stefan Bröer 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB 👁 1 views

## 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 neu