Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jennifer A. Ogbeta"'
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 10 (2021)
Within the past 20 years, particularly with the advent of exome sequencing technologies, autosomal dominant and de novo mutations in the gene encoding the neurone-specific α3 subunit of the Na+,K+-ATPase (NKA α3) pump, ATP1A3, have been identified
Externí odkaz:
https://doaj.org/article/7035b6e4dfde46918964a643b960b845
Autor:
Ahmed H. Al-Amri, Paul Armstrong, Mascia Amici, Clemence Ligneul, James Rouse, Mohammed E. El-Asrag, Andreea Pantiru, Valerie E. Vancollie, Hannah W.Y. Ng, Jennifer A. Ogbeta, Kirstie Goodchild, Jacob Ellegood, Christopher J. Lelliott, Jonathan G.L. Mullins, Amanda Bretman, Ruslan Al-Ali, Christian Beetz, Lihadh Al-Gazali, Aisha Al Shamsi, Jason P. Lerch, Jack R. Mellor, Abeer Al Sayegh, Manir Ali, Chris F. Inglehearn, Steven J. Clapcote
Publikováno v:
Al-Amri, A H, Armstrong, P, Amici, M, Ligneul, C, Mellor, J R & Clapcote, S J 2022, ' PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice and Fruit Flies ', Biological Psychiatry, vol. 92, no. 4, pp. 323-334 . https://doi.org/10.1016/j.biopsych.2021.12.017
BackgroundThe discovery of coding variants in genes that confer risk of intellectual disability (ID) is an important step toward understanding the pathophysiology of this common developmental disability.MethodsHomozygosity mapping, whole-exome sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c438ba4555785a1f1213cff239036c
https://cronfa.swan.ac.uk/Record/cronfa59175/Download/59175__23886__9c4736e50fd24c30adbf62bd8435ff6d.pdf
https://cronfa.swan.ac.uk/Record/cronfa59175/Download/59175__23886__9c4736e50fd24c30adbf62bd8435ff6d.pdf
