Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J.
Hopfner F, et al. Among authors: berthele a.
BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134.
BMC Neurol. 2011.
PMID: 22032306
Free PMC article.