Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Fernando Eduardo Ayala Valenzuela"'
Autor:
Jia-Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Berardo Rinaldi, Wenhui Laura Li, Qing-Qing Li, Dan Wu, Benedicte Gerard, Erin Thorpe, Allan Bayat, Yun Stone Shi
Publikováno v:
PLoS Genetics, Vol 17, Iss 6, p e1009608 (2021)
The X-linked GRIA3 gene encodes the GLUA3 subunit of AMPA-type glutamate receptors. Pathogenic variants in this gene were previously reported in neurodevelopmental diseases, mostly in male patients but rarely in females. Here we report a de novo path
Externí odkaz:
https://doaj.org/article/7fa5280a169c4fc5a445edac625eab68
Autor:
Qing Qing Li, Diane Masser-Frye, Wenhui Laura Li, Berardo Rinaldi, Carolyn Brown, Marilyn C. Jones, Dan Wu, Erin Thorpe, Leslie Patrón Romero, Jiang Chen, Bénédicte Gérard, Allan Bayat, Fernando Eduardo Ayala Valenzuela, Yun Stone Shi, Jia Hui Sun
Publikováno v:
PLoS genetics, vol 17, iss 6
PLoS Genetics, Vol 17, Iss 6, p e1009608 (2021)
Sun, J H, Chen, J, Valenzuela, F E A, Brown, C, Masser-Frye, D, Jones, M, Romero, L P, Rinaldi, B, Li, W L, Li, Q Q, Wu, D, Gerard, B, Thorpe, E, Bayat, A & Shi, Y S 2021, ' X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 ', PLOS Genetics, vol. 17, no. 6, e1009608 . https://doi.org/10.1371/journal.pgen.1009608
PLoS Genetics
PLoS Genetics, Vol 17, Iss 6, p e1009608 (2021)
Sun, J H, Chen, J, Valenzuela, F E A, Brown, C, Masser-Frye, D, Jones, M, Romero, L P, Rinaldi, B, Li, W L, Li, Q Q, Wu, D, Gerard, B, Thorpe, E, Bayat, A & Shi, Y S 2021, ' X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 ', PLOS Genetics, vol. 17, no. 6, e1009608 . https://doi.org/10.1371/journal.pgen.1009608
PLoS Genetics
The X-linked GRIA3 gene encodes the GLUA3 subunit of AMPA-type glutamate receptors. Pathogenic variants in this gene were previously reported in neurodevelopmental diseases, mostly in male patients but rarely in females. Here we report a de novo path
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b56c2d5eb544a8cd9d4f20a8d5c7f5
https://escholarship.org/uc/item/1v56z4bn
https://escholarship.org/uc/item/1v56z4bn
