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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Millar, David S, Tysoe, Carolyn, Lazarou, Lazarus P, Pilz, Daniela T, Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David N, Butler, Rachel
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2010
Gaiak:
Primary Research
Sarrera elektronikoa: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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