Mutations in SLC6A19, encoding B super(0)AT1, cause Hartnup disorder

Hartnup disorder, an autosomal recessive defect named after an English family described in 1956, results from impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra (rashes), cerebellar...

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Veröffentlicht in:	Nature genetics 2004-09, Vol.36 (9), p.999-1002
Hauptverfasser:	Kleta, Robert, Romeo, Elisa, Ristic, Zorica, Ohura, Toshihiro, Stuart, Caroline, Arcos-Burgos, Mauricio, Dave, Mital H, Wagner, Carsten A, Camargo, Simone R M, Inoue, Sumiko, Matsuura, Norio, Helip-Wooley, Amanda, Bockenhauer, Detlef, Warth, Richard, Bernardini, Isa, Visser, Gepke, Eggermann, Thomas, Lee, Philip, Chairoungdua, Arthit, Jutabha, Promsuk, Babu, Ellappan, Nilwarangkoon, Sirinun, Anzai, Naohiko, Kanai, Yoshikatsu, Verrey, Francois, Gahl, William A, Koizumi, Akio
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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