1. Critical consequences of finding three pathogenic mutations in an individual with recessive disease. Issue 11 (2nd August 2010) Authors: Halsall, Sally; Nicholas, Adeline K; Thornton, Gemma; Martin, Howard; Geoffrey Woods, C Journal: Journal of medical genetics Issue: Volume 47:Issue 11(2010) Page Start: 769 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗