Skip to main content
Figure 3 | Human Genomics

Figure 3

From: An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1(LIS1) gene

Figure 3

Exon 2 of the PAFAH1B1 gene in the patient indicating the 130 bp insertion (underlined), the wild-type translational initiation site (ATG; in bold and underlined), the positions of the wild-type exon 2 acceptor and donor splice sites (highlighted in yellow) and the putative novel acceptor splice site (highlighted in green).

Back to article page

Human Genomics

ISSN: 1479-7364