PATU2 Novel truncation mutation of PRNP causes chronic diarrhoea, sensory neuropathy and autonomic failure associated with prion protein deposition in the cerebral blood vessels and small bowel
S Mead, J Linehan, J Beck, D Caine, S Gandhi, J D F Wadsworth, S Joiner, D Gallujipali, H Hyare, A Lees, J Holton, M Sandberg, T Revesz, C Carswell, J D Warren, J Collinge, N Wood
Journal of Neurology, Neurosurgery & Psychiatry Nov 2010, 81 (11) e24; DOI: 10.1136/jnnp.2010.226340.31