Tissue-Specific Splicing Mutation in Acute Intermittent Porphyria

Autor: Grandchamp, B., Picat, C., Mignotte, V., Wilson, J. H. P., Velde, K. Te, Sandkuyl, L., Roméo, P. H., Goossens, M., Nordmann, Y.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1989 Jan . 86(2), 661-664.

Externí odkaz: https://www.jstor.org/stable/33186

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria

Autor: Groß, U, Puy, H, Doss, M, Robreau, AM, Nordmann, Y, Doss, MO, Deybach, JC

Publikováno v: In Molecular and Cellular Probes December 1999 13(6):443-447

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis

Autor: Tchernitchko, D ^a, Lamoril, J ^a, Puy, H ^a, Robreau, A.M ^a, Bogard, C ^a, Rosipal, R ^b, Gouya, L ^a, Deybach, J.C ^{a, *}, Nordmann, Y ^a

Publikováno v: In Clinica Chimica Acta 1999 279(1):133-143

Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele

Autor: Gouya, L., Deybach, J. C., Lamoril, J., Da Silva, V., Beaumont, C., Grandchamp, B., Nordmann, Y.

Erythropoietic protoporphyria (EPP) is a monogenic inherited disorder of the heme biosynthetic pathway due to ferrochelatase (FC) deficiency. EPP is generally considered to be transmitted as an autosomal dominant disease with incomplete penetrance, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b0ebe7493c6c1c36228930dddb7edff2
https://europepmc.org/articles/PMC1914527/

Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease

Autor: Tutois, S, Montagutelli, X., da Silva, V, Jouault, H, Rouyer-Fessard, P, Leroy-Viard, K, Guénet, J, Nordmann, Y, Beuzard, Y, Deybach, J, Jouault, J

Publikováno v: Journal of Clinical Investigation
Journal of Clinical Investigation, 1991, 88 (5), pp.1730-1736. ⟨10.1172/jci115491⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 1991, 88 (5), pp.1730-1736. ⟨10.1172/jci115491⟩

International audience; A viable autosomal recessive mutation (named fch, or ferrochelatase deficiency) causing jaundice and anemia in mice arose in a mutagenesis experiment using ethylnitrosourea. Homozygotes (fch/fch) display a hemolytic anemia, ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fa60c7c72043579430aba54a61cbcb3
https://hal.uca.fr/hal-01920370