Tissue-specific splicing mutation in acute intermittent porphyria.

Bernard Grandchamp, C. Picat, Vincent Mignotte, +6

Proceedings of the National Academy of Sciences

BiologyGenetic DisorderNatural SciencesGeneticsPathogenesis +12

A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

Bernard Grandchamp, C. Picat, Felix de Rooij, +4

Nucleic Acids Research

A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer.

Catherine Porcher, Marie‐Claire Malinge, C. Picat, +1

PubMed

GeneticsDna AnalysisMolecular BiologyNucleic Acid Amplification TestMolecular Genetics +23

The Mouse Porphobilinogen Deaminase Gene

C. Beaumont, Catherine Porcher, C. Picat, +2

Journal of Biological Chemistry

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

Bernard Grandchamp, C. Picat, Raili Kauppinen, +6

European Journal of Clinical Investigation

Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

Marie Hélène Delfau, C. Picat, F W de Rooij, +6

Journal of Clinical Investigation

BiologyBacterial Expression VectorAllergyGeneticsPathogenesis +11

Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain

M Garbarz, MC Lecomte, Carlo V. Feo, +7

Blood

DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA

David H. Llewellyn, Noor Kalsheker, Paul R. Harrison, +7

The Lancet

BiologyGeneticsPathogenesisMolecular GeneticsGenomics +2

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

Marie Hélène Delfau, C. Picat, Felix de Rooij, +4

PubMed

Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.

M Garbarz, William Tse, PG Gallagher, +5

Journal of Clinical Investigation

GeneticsMolecular BiologyPathologyGene CharacterizationMolecular Genetics +16