The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysis
BEAUMONT, C, PORCHER, C, PICAT, C, NORDMANN, Y, GRANDCHAMP, B
Published in The Journal of biological chemistry (05.09.1989)
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Published in The Journal of biological chemistry (05.09.1989)
Journal Article
Tissue-Specific Splicing Mutation in Acute Intermittent Porphyria
Grandchamp, B., Picat, C., Mignotte, V., Wilson, J. H. P., Velde, K. Te, Sandkuyl, L., Roméo, P. H., Goossens, M., Nordmann, Y.
Published in Proceedings of the National Academy of Sciences - PNAS (01.01.1989)
Published in Proceedings of the National Academy of Sciences - PNAS (01.01.1989)
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Journal Article
Two different point G to a mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria
DELFAU, M. H, PICAT, C, DE ROOIJ, F. W. M, HAMER, K, BOGARD, M, WILSON, J. H. P, DEYBACH, J. C, NORDMANN, Y, GRANDCHAMP, B
Published in The Journal of clinical investigation (01.11.1990)
Published in The Journal of clinical investigation (01.11.1990)
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Journal Article
A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria
Grandchamp, B., Picat, C., de Rooij, F., Beaumont, C., Wilson, P., Deybach, J.C., Nordmann, Y.
Published in Nucleic acids research (1989)
Published in Nucleic acids research (1989)
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Molecular heterogeneity of acute intermittent porphyria : identification of four additional mutations resulting in the CRIM-negative subtype of the disease
DELFAU, M. H, PICAT, C, DE ROOIJ, F, VOORTMAN, G, DEYBACH, J. C, NORDMAN, Y, GRANDCHAMP, B
Published in American journal of human genetics (01.08.1991)
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Published in American journal of human genetics (01.08.1991)
Journal Article
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase
Grandchamp, B, Picat, C, Kauppinen, R, Mignotte, V, Peltonen, L, Mustajoki, P, Roméo, P H, Goossens, M, Nordmann, Y
Published in European journal of clinical investigation (01.10.1989)
Published in European journal of clinical investigation (01.10.1989)
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Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria
Picat, C, Delfau, M H, de Rooij, F W, Beukeveld, G J, Wolthers, B G, Wadman, S K, Nordmann, Y, Grandchamp, B
Published in Journal of inherited metabolic disease (01.09.1990)
Published in Journal of inherited metabolic disease (01.09.1990)
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Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosis
Garbarz, M, Lecomte, MC, Dhermy, D, Feo, C, Chaveroche, I, Gautero, H, Bournier, O, Picat, C, Goepp, A, Boivin, P
Published in Blood (01.06.1986)
Published in Blood (01.06.1986)
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Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression
Lecomte, M C, Dhermy, D, Garbarz, M, Feo, C, Gautero, H, Bournier, O, Picat, C, Chaveroche, I, Galand, C, Boivin, P
Published in Human genetics (01.12.1987)
Published in Human genetics (01.12.1987)
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Journal Article
A point mutation G→A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria
GRANDCHAMP, B, PICAT, C, DE ROOIJ, F, BEAUMONT, C, WILSON, P, DEYBACH, J. C, NORDHMANN, Y
Published in Nucleic acids research (25.08.1989)
Published in Nucleic acids research (25.08.1989)
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Functional analysis of DNase-I hypersensitive sites at the mouse porphobilinogen deaminase gene locus. Different requirements for position-independent expression from its two promoters
Porcher, C, Picat, C, Daegelen, D, Beaumont, C, Grandchamp, B
Published in The Journal of biological chemistry (21.07.1995)
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Published in The Journal of biological chemistry (21.07.1995)
Journal Article
Uroporphyrinogen Decarboxylase Structural Mutant (Gly$^{281}$ $\rightarrow $ Glu) in a Case of Porphyria
De Verneuil, Hubert, Grandchamp, Bernard, Beaumont, Carole, Picat, Christiane, Nordmann, Yves
Published in Science (American Association for the Advancement of Science) (07.11.1986)
Published in Science (American Association for the Advancement of Science) (07.11.1986)
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Hereditary pyropoikilocytosis and elliptocytosis in a white french family with the spectrin αI/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin αI domain
GARBARZ, M, LECOMTE, M.-C, FORGET, B. G, BOIVIN, P, DHERMY, D, FEO, C, DEVAUX, I, PICAT, C, LEFEBVRE, C, GALIBERT, F, GAUTERO, H, BOURNIER, O, GALAND, C
Published in Blood (15.04.1990)
Published in Blood (15.04.1990)
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