Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

Por Parsons, D W, McAndrew, P E, Iannaccone, S T, Mendell, J R, Burghes, A H, Prior, T W
Publicado em 1998

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.

Por Parsons, D W, McAndrew, P E, Allinson, P S, Parker, W D, Burghes, A H, Prior, T W
Publicado em 1998

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

Por McAndrew, P E, Parsons, D W, Simard, L R, Rochette, C, Ray, P N, Mendell, J R, Prior, T W, Burghes, A H
Publicado em 1997