An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the <it>PAFAH1B1 </it>(LIS1) gene
<p>Abstract</p> <p>A 130 base pair (bp) insertion (g.-8delCins130) into the 5' untranslated region of the <it>PAFAH1B1 </it>(LIS1) gene, seven nucleotides upstream of the translational initiation site, was detected in an isolated case of lissencephaly. The inserted...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2010-08-01
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Series: | Human Genomics |
Subjects: | |
Online Access: | http://www.humgenomics.com/content/4/6/384 |