TY - JOUR AU - Ramser, J TI - Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy JO - Am J Hum Genet VL - 82 PY - 2008 DO - 10.1016/j.ajhg.2007.09.009 L3 - PubMed-ID: 18179898 SP - 188 EP - 193. N1 - et al. ER -