Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis:Identification and characterization of six novel mutations associated with familial PCT

Autor: Christiansen, L, Ged, C, Hombrados, I, Brons-Poulsen, J, Fontanellas, A, de Verneuil, H, Hørder, M, Petersen, N E

Publikováno v: Christiansen, L, Ged, C, Hombrados, I, Brons-Poulsen, J, Fontanellas, A, de Verneuil, H, Hørder, M & Petersen, N E 1999, ' Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis : Identification and characterization of six novel mutations associated with familial PCT ', Human Mutation, vol. 14, no. 3, pp. 222-232 . https://doi.org/10.1002/(SICI)1098-1004(1999)14:3<222::AID-HUMU5>3.0.CO;2-V

Udgivelsesdato: 1999-null The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with mutations in the gene encoding the enzyme uroporphyrinogen decarboxylase (UROD). Several mutations, mo

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https://portal.findresearcher.sdu.dk/da/publications/dbcd38c0-ba97-11dc-9626-000ea68e967b

PRENATAL DIAGNOSIS IN CONGENITAL ERYTHROPOIETIC PORPHYRIA BY METABOLIC MEASUREMENT AND DNA MUTATION ANALYSIS.

Autor: GED, C., MOREAU-GAUDRY, F., TAINE, L., HOMBRADOS, I., CALVAS, P., COLOMBIES, P., DE VERNEUIL, H.

Publikováno v: Prenatal Diagnosis; Jan1996, Vol. 16 Issue 1, p83-86, 4p

Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.

Autor: Goudet, Claire¹ (AUTHOR) claire.goudet@ap-hm.fr, Ged, Cécile^2,3,4 (AUTHOR) antoine.poli@aphp.fr, Petit, Audrey¹ (AUTHOR) audrey.petit@ap-hm.fr, Desage, Chloe⁵ (AUTHOR) p-mahe@chu-montpellier.fr, Mahe, Perrine⁵ (AUTHOR), Salhi, Aicha⁶ (AUTHOR) salhi2002dz@yahoo.fr, Harzallah, Ines⁷ (AUTHOR) ines.harzallah@chu-st-etienne.fr, Blouin, Jean-Marc^2,3,4,8 (AUTHOR) laurent.gouya@inserm.fr, Mercie, Patrick^3,4,8,9 (AUTHOR), Schmitt, Caroline^4,10,11 (AUTHOR), Poli, Antoine^4,10,11 (AUTHOR), Gouya, Laurent^4,10,11 (AUTHOR), Barlogis, Vincent¹ (AUTHOR) vincent.barlogis@ap-hm.fr, Richard, Emmanuel^2,3,4,8 (AUTHOR) emmanuel.richard@u-bordeaux.fr

Publikováno v: Life (2075-1729). Jan2024, Vol. 14 Issue 1, p130. 11p.

The N-terminal and C-terminal amino acid sequence of badger myoglobin

Autor: Tetaert, D., Han, K., Dautrevaux, M., Ducastaing, S., Hombrados, I., Neuzil, E.

Publikováno v: FEBS Letters; January 1973, Vol. 29 Issue: 1 p38-42, 5p

Hemoglobin J-Rovigo or α253(E2)ALA→ASPβ2 in a Saudi Patient.

Autor: Hombrados, I., Neuzil, E., Arnould, X.

Publikováno v: Hemoglobin; 1987, Vol. 11 Issue 4, p379-381, 3p