Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria

Author:

Schmitt Caroline,Gouya Laurent,Malonova Eva,Lamoril Jérôme,Camadro Jean-Michel,Flamme Magali,Rose Christian,Lyoumi Said,Da Silva Vasco,Boileau Catherine,Grandchamp Bernard,Beaumont Carole,Deybach Jean-Charles,Puy Hervé

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference36 articles.

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2. Elder, G.H., Evans, J.O., Jackson, J.R. and Jackson, A.H. (1978) Factors determining the sequence of oxidative decarboxylation of the 2- and 4-propionate substituents of coproporphyrinogen III by coproporphyrinogen III oxidase in rat liver. Biochem. J., 169, 215–223.

3. Anderson, K.E., Sassa, S., Bishop, D.F. and Desnick, R.J. (2001) Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Basis of Inherited Diseases. McGraw-Hill, NY, 8th edn, pp.2961–3062.

4. Martasek, P. (1998) Hereditary coproporphyria. Semin. Liver Dis., 18, 25–32.

5. Nordmann, Y. and Deybach, J.C. (1990) Human hereditary porphyrias. In Dailey, H.A. (ed.), Biosynthesis of Heme and Chlorophylls. McGraw-Hill, NY, pp. 491–502.

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