C. Picat

Tissue-specific splicing mutation in acute intermittent porphyria.

Bernard Grandchamp, C. Picat, Vincent Mignotte et al. · Proceedings of the National Academy of Sciences · 1989 · 123 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

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 et al. · Nucleic Acids Research · 1989 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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 et al. · PubMed · 1992 · 79 citations

Life Sciences, Genetics, Molecular Biology +14

The Mouse Porphobilinogen Deaminase Gene

C. Beaumont, Catherine Porcher, C. Picat et al. · Journal of Biological Chemistry · 1989 · 75 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

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

Bernard Grandchamp, C. Picat, Raili Kauppinen et al. · European Journal of Clinical Investigation · 1989 · 72 citations

Life Sciences, Genetics, Molecular Genetics +12