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

A 130 base pair (bp) insertion (g.-8delCins130) into the 5' untranslated region of the PAFAH1B1 (LIS1) gene, seven nucleotides upstream of the translational initiation site, was detected in an isolated case of lissencephaly. The inserted DNA sequence exhibited perfect homology to two non-contig...

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Detalhes bibliográficos
Main Authors: Millar, David S, Tysoe, Carolyn, Lazarou, Lazarus P, Pilz, Daniela T, Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David N, Butler, Rachel
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Primary Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3525223/
https://ncbi.nlm.nih.gov/pubmed/20846927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1479-7364-4-6-384
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