Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been identified as an autosomal-dominant disorder characterized by a complex neurological phenotype, with high prevalence of intellectual disability and optic nerve atrophy/hypoplasia. The syndrome is caused by loss-of-function mutations in N...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: Chen, Chun-An, Wang, Wei, Pedersen, Steen E, Raman, Ayush, Seymour, Michelle L, Ruiz, Fernanda R, Xia, Anping, van der Heijden, Meike E, Wang, Li, Yin, Jiani, Lopez, Joanna, Rech, Megan E, Lewis, Richard A, Wu, Samuel M, Liu, Zhandong, Pereira, Fred A, Pautler, Robia G, Zoghbi, Huda Y, Schaaf, Christian P
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2020
Aiheet:
General Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7104670/
https://ncbi.nlm.nih.gov/pubmed/31600777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz233
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