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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Bibliografski detalji
Glavni autori: Millar, David S, Tysoe, Carolyn, Lazarou, Lazarus P, Pilz, Daniela T, Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David N, Butler, Rachel
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2010
Teme:
Primary Research
Online pristup: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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