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Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

Franziska Hopfner*, Barbara Schormair, Franziska Knauf, Achim Berthele, Thomas R Tölle, Ralf Baron, Christoph Maier, Rolf-Detlef Treede, Andreas Binder, Claudia Sommer, Christian Maihöfner, Wolfram Kunz, Friedrich Zimprich, Uwe Heemann, Arne Pfeufer, Michael Näbauer, Stefan Kääb, Barbara Nowak, Christian Gieger, Peter Lichtner, Claudia Trenkwalder, Konrad Oexle and Juliane Winkelmann*

BMC Neurology 2011, 11:134  doi:10.1186/1471-2377-11-134

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