Hartnup disorder: Polymorphisms identified in the neutral amino acid transporter SLC1A5
β Scribed by S. J. Potter; A. Lu; B. Wilcken; K. Green; J. E. J. Rasko
- Book ID
- 110406672
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 138 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0141-8955
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## 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 photoβsensitive skinβrash and cerebellar ataxia. The disorder is caused by mutations in the neu
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