Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. We show an association between bilateral asymmetrical polymicrogyria and de novo mutations in a β-tubulin...

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Bibliografiset tiedot
Päätekijät: Jaglin, Xavier Hubert, Poirier, Karine, Saillour, Yoann, Buhler, Emmanuelle, Tian, Guoling, Bahi-Buisson, Nadia, Fallet-Bianco, Catherine, Phan-Dinh-Tuy, Françoise, Kong, Xiang Peng, Bomont, Pascale, Castelnau-Ptakhine, Laëtitia, Odent, Sylvie, Loget, Philippe, Kossorotoff, Manoelle, Snoeck, Irina, Plessis, Ghislaine, Parent, Philippe, Beldjord, Cherif, Cardoso, Carlos, Represa, Alfonso, Flint, Jonathan, Keays, David Anthony, Cowan, Nicholas Justin, Chelly, Jamel
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Pub. Co 2009
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2883584/
https://ncbi.nlm.nih.gov/pubmed/19465910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.380
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