Authors: Parsons, DW McAndrew, PE Iannaccone, ST Mendell, JR Burghes, AHM Prior, TW

Citation: Dw. Parsons et al., Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number, AM J HU GEN, 63(6), 1998, pp. 1712-1723