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Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Campbell HD, Webb GC, Young IG (1997) A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-1 hyperprolinaemia. Hum Genet 101: 69–74.

    Google Scholar 

  • Jaeken J, Goemans N, Fryns J-P, Francois I, de Zegher F (1996) Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. J Inherit Metab Dis 19: 275–277.

    Google Scholar 

  • Lin W-W (1998) Molecular genetic studies of proline oxidase homologs in humans and mice. PhD dissertation, Johns Hopkins University School of Medicine.

  • Phang JM, Scriver CR (1989) Disorders of proline and hydroxyproline metabolism. In Scriver CR, Beaudet AL, Sly WS and Valle D, eds. TheMetabolic Basis of InheritedDisease, 6th ed. New York: McGraw-Hill, 577–597.

    Google Scholar 

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Goodman, B.K., Rutberg, J., Lin, W.W. et al. Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome. J Inherit Metab Dis 23, 847–848 (2000). https://doi.org/10.1023/A:1026773005303

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  • DOI: https://doi.org/10.1023/A:1026773005303

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