Skip to main content
. 2011 May 25;19(10):1059–1065. doi: 10.1038/ejhg.2011.89

Figure 1.

Figure 1

Origin of the FL-SMN transcripts in patients with the c.399_402del AGAG mutation. (a) RT-PCR analysis of total RNA extracted from fibroblasts. The 504-bp fragment includes exons 6–8 of the SMN gene. The 450-bp fragment includes exons 6–8 lacking exon 7 and the 200-bp fragment corresponds to the β-actin fragment. (b) DdeI digestion of the SMN RT-PCR amplified fragment to determine the origin of the various transcripts. Note that no SMN transcripts originate from the SMN1 gene in these patients. All patients are identified using the same numbers as in Table 1.