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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

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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 and Koizumi, Akio (2004) Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nature Genetics 36 (9), pp. 999-1002.

Date of publication of this fulltext: 19 Dec 2024 15:11
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Item typeArticle
Journal or Publication TitleNature Genetics
Publisher:NATURE PUBLISHING GROUP
Place of Publication:NEW YORK
Volume:36
Number of Issue or Book Chapter:9
Page Range:pp. 999-1002
Date2004
InstitutionsBiology, Preclinical Medicine > Institut für Physiologie > Prof. Dr. Richard Warth
Identification Number
ValueType
10.1038/ng1405DOI
KeywordsRECESSIVE TRAITS; TRANSPORTER; NEPHRON;
Dewey Decimal Classification500 Science > 570 Life sciences
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID71344

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