Zobrazeno 1 - 3
of 3
pro vyhledávání: '"EOS, early onset sarcoidosis"'
Publikováno v:
American Journal of Ophthalmology Case Reports
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
American Journal of Ophthalmology Case Reports, Vol 18, Iss, Pp-(2020)
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
American Journal of Ophthalmology Case Reports, Vol 18, Iss, Pp-(2020)
Purpose To report the ophthalmological approach of a patient with Blau syndrome (BS) in Colombia. Observations We describe a 9-year-old Colombian boy with sporadic BS due to a de novo nucleotide-binding oligomerization domain containing 2 (NOD2) muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf4531e6845b293e6c87b060adbe5a59
https://doi.org/10.1016/j.ajoc.2020.100714
https://doi.org/10.1016/j.ajoc.2020.100714
Publikováno v:
Febs Letters
Highlights • NOD2 SNPs that cause Blau syndrome cluster in two regions of the NACHT. • The ATP/Mg2+ binding pocket cluster are likely to dysregulate ATP hydrolysis. • SNPs in helical domain 1 are predicted to influence receptor autoinhibition.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95b0f57f940fda6dbf5e5c02c721cae7
https://doi.org/10.1016/j.febslet.2014.07.029
https://doi.org/10.1016/j.febslet.2014.07.029
Autor:
Marín-Noriega MA; NeURos Research Group. Escuela de Medicina y Ciencias de La Salud, Universidad Del Rosario, Carrera 24 # 63 C 69, Bogotá, Colombia., Muñoz-Ortiz J; NeURos Research Group. Escuela de Medicina y Ciencias de La Salud, Universidad Del Rosario, Carrera 24 # 63 C 69, Bogotá, Colombia.; Escuela Barraquer Research Group. Escuela Superior de Oftalmología del Instituto Barraquer de América, Avenida Calle 100 # 18A - 51, Bogotá, Colombia., Mosquera C; Programa de Reumatología Pediátrica. Universidad Del Bosque, Calle 131A #9-2, Bogotá, Colombia., de-la-Torre A; NeURos Research Group. Escuela de Medicina y Ciencias de La Salud, Universidad Del Rosario, Carrera 24 # 63 C 69, Bogotá, Colombia.
Publikováno v:
American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2020 Apr 18; Vol. 18, pp. 100714. Date of Electronic Publication: 2020 Apr 18 (Print Publication: 2020).