Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal-dysfunction-cholestasis (ARC) syndrome

Paul Gissen, Colin Johnson, Neil Morgan, JM Stapelbroek, T Forshew, Wendy Cooper, Patrick McKiernan, LW Klomp, AA Morris, JE Wraith, P McClean, SA Lynch, RJ Thompson, B Lo, OW Quarrell, M Di Rocco, RC Trembath, H Mandel, S Wali, FE KaretAS Knisely, RH Houwen, Deirdre Kelly, Eamonn Maher

Research output: Contribution to journal › Article

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Medicine & Life Sciences