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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 DNA sequence exhibited perfect hom...

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Main Authors: Millar David S, Tysoe Carolyn, Lazarou Lazarus P, Pilz Daniela T, Mohammed Shehla, Anderson Katharine, Chuzhanova Nadia, Cooper David N, Butler Rachel
Format: Artigo
Language:Inglês
Published: BMC 2010-08-01
Series:Human Genomics
Subjects:
lissencephaly
PAFAH1B1 gene
mitochondrial genome
insertion
Online Access:http://www.humgenomics.com/content/4/6/384
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