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pro vyhledávání: '"Kenneth M. Palanza BSc"'
Autor:
Kenneth M. Palanza BSc, Alex V. Nesta BSc, Renukanandan Tumu, Cherie M. Walton MSc, Michael A. Davis PhD, Thomas R. King PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
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
Externí odkaz:
https://doaj.org/article/46413e5539b7433cb603aa9d44d7a727
