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Figure 2 | Human Genomics

Figure 2

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 2

Sequence homology between the 130 bp sequence inserted into exon 2 of the patient's PAFAH1B1 gene, the mitochondrial genome (8479 to 8835) and the mitochondrial pseudogene (NUMT) sequence located at chromosome 1p36 (48015 to 47659). The mismatch between the inserted sequence and the chromosome 1 NUMT is highlighted in yellow.

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Human Genomics

ISSN: 1479-7364