1. A novel splice site mutation in a Becker muscular dystrophy patient. Issue 4 (April 1996) Authors: Bartolo, C; Papp, A C; Snyder, P J; Sedra, M S; Burghes, A H; Hall, C D; Mendell, J R; Prior, T W Journal: Journal of medical genetics Issue: Volume 33:Issue 4(1996) Page Start: 324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis. Issue 8 (August 1998) Authors: Parsons, D W; McAndrew, P E; Allinson, P S; Parker, W D; Burghes, A H; Prior, T W Journal: Journal of medical genetics Issue: Volume 35:Issue 8(1998) Page Start: 674 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗