Fig. 3From: Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage diseaseSequencing of this ~6 kb fragment confirmed the presence of a 6040 bp LINE-1 retrotransposon, which was inserted in intron 9 (a). PCR analyses confirmed that the unaffected parents were heterozygous for this insertion, while the index was homozygous (b)Back to article page