Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum
Sian Williams(Churchill Hospital), Rajesh V. Thakker(Queen Mary University of London), William Wong, Vincent Morinière(Hôpital Necker-Enfants Malades), Karl Lhotta(Landeskrankenhaus Feldkirch), Juris Galvanovskis(Mansfield University), Peter Kotanko(Renal Research Institute), Corinne Antignac(Hôpital Necker-Enfants Malades), Fiona E. Karet(Howard Hughes Medical Institute), Patrik Rorsman(Churchill Hospital), Adam J. Reed, Tim Goodship(Newcastle University), Paul F. Williams(Lawrence Berkeley National Laboratory)
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