Auxotrophy-Based Detection of Hyperornithinemia in Mouse Blood and Urine

Autor: Renukanandan Tumu, Alex V. Nesta, Kenneth M. Palanza, Michael Davis, Cherie M. Walton, Thomas R. King

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Journal of Inborn Errors of Metabolism and Screening v.4 2016
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 4, Article number: e160015, Published: 30 MAY 2019

Gyrate atrophy of the choroid and retina (GACR) is a hereditary form of progressive blindness caused by homozygosity for loss-of-function mutations in the ornithine aminotransferase gene (Oat). The high levels of circulating ornithine that lead to op

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9071ad5fd287c85ea8f268e0903be9de
https://doi.org/10.1177/2326409816649600