Intragenic deletion in the gene encoding L-gulonolactone oxidase causes vitamin C deficiency in pigs

@article{Hasan2003IntragenicDI,
  title={Intragenic deletion in the gene encoding L-gulonolactone oxidase causes vitamin C deficiency in pigs},
  author={Lara Hasan and Peter Voegeli and Peter Stoll and {\vS}pela {\vS}pilar Gerald KramerStranzinger and Stefan Neuenschwander},
  journal={Mammalian Genome},
  year={2003},
  volume={15},
  pages={323-333}
}
The absence of L-ascorbic acid (L-AA, or AA) synthesis in scurvy-prone organisms, including humans, other primates, guinea pigs, and flying mammals, was traced to the lack of L-gulonolactone oxidase (GULO) activity. GULO is a microsomal enzyme that catalyzes the terminal step in the biosynthesis of L-AA. Clinical cases of scurvy were described in a family of Danish pigs. This trait is controlled by a single autosomal recessive allele designated od (osteogenic disorder). Here we demonstrate that… CONTINUE READING

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