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Figure 1 | Human Genomics

Figure 1

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 1

A. Diagram of the PAFAH1B1 gene on chromosome 17p13.3. B. Wild-type DNA sequence of exon 2 of the PAFAH1B1 gene flanking the insertion site. The translational initiation site (ATG) is shown in bold. The cytosine residue that was deleted during the insertion is underlined. C. The 130 bp inserted sequence homologous to the mitochondrial genome.

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