Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

@article{Hagen2015GeneticBO,
  title={Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria},
  author={J. Hagen and H. T. Brinke and R. Wanders and A. C. Knegt and E. Oussoren and A. Hoogeboom and G. Ruijter and Daniel Becker and K. Schwab and Ingo Franke and M. Dur{\'a}n and H. Waterham and J. Sass and S. Houten},
  journal={Journal of Inherited Metabolic Disease},
  year={2015},
  volume={38},
  pages={873-879}
}
Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. [...] Key Method We have now sequenced DHTKD1 in nine patients diagnosed with alpha-aminoadipic and alpha-ketoadipic aciduria as well as one patient with isolated alpha-aminoadipic aciduria, and identified causal mutations in eight. We report nine novel mutations, including three missense mutations, two nonsense mutations, two splice donor mutations, one duplication, and…Expand
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