Type I hyperprolinemia: genotype/phenotype correlations.

@article{Guilmatre2010TypeIH,
  title={Type I hyperprolinemia: genotype/phenotype correlations.},
  author={Audrey Guilmatre and Solenn Legallic and Gary Steel and Alecia Willis and Gabriella Di Rosa and Alice Goldenberg and Val{\'e}rie Drouin-Garraud and Agn{\`e}s F. Guet and Cyril Mignot and Vincent des Portes and Vassili Valayannopoulos and Lionel Van Maldergem and Jodi D. Hoffman and Claudia Izzi and Caroline Espil-Taris and Simona Orcesi and Luisa Bonafė and Eric Le Galloudec and H{\'e}l{\`e}ne Maurey and Christine Ioos and Alexandra Afenjar and Patricia Blanchet and Bernard Echenne and Agathe Roubertie and Thierry Frebourg and David Valle and Dominique Campion},
  journal={Human mutation},
  year={2010},
  volume={31 8},
  pages={
          961-5
        }
}
Type I hyperprolinemia (HPI) is an autosomal recessive disorder associated with cognitive and psychiatric troubles, caused by alterations of the Proline Dehydrogenase gene (PRODH) at 22q11. HPI results from PRODH deletion and/or missense mutations reducing proline oxidase (POX) activity. The goals of this study were first to measure in controls the frequency of PRODH variations described in HPI patients, second to assess the functional effect of PRODH mutations on POX activity, and finally to… CONTINUE READING
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