Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.

Ged, C; Moreau-Gaudry, F; Richard, E; Robert-Richard, E; de Verneuil, H

Ged, C; Moreau-Gaudry, F; Richard, E; Robert-Richard, E; de Verneuil, H.

Affiliation

Ged C; INSERM, U876 Bordeaux, France. cecile.ged@u-bordeaux2.fr

Cell Mol Biol (Noisy-le-grand) ; 55(1): 53-60, 2009 Feb 16.

Article in En | MEDLINE | ID: mdl-19268002

Subject(s)

Mutation/physiology; Phenotype; Porphyria, Erythropoietic/genetics; Genotype; Humans; Mutation/genetics; Porphyria, Erythropoietic/enzymology; Uroporphyrinogen III Synthetase/genetics; Uroporphyrinogen III Synthetase/physiology

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Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Porphyria, Erythropoietic / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: Cell Mol Biol (Noisy-le-grand) Journal subject: BIOLOGIA MOLECULAR Year: 2009 Type: Article Affiliation country: France

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