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C Picat

Showing results (21-30 of 31) with videos related to

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European Journal of Clinical Investigation|October 1, 1989
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminaseB Grandchamp, C Picat, R Kauppinen, et al.
The Journal of Clinical Investigation|July 1, 1991
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 mutationM Garbarz, W T Tse, P G Gallagher, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 1, 1989
[Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant]M Garbarz, I Devaux, B Grandchamp, et al.
Blood|April 15, 1990
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 domainM Garbarz, M C Lecomte, C Féo, et al.
Blood|June 1, 1986
Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosisM Garbarz, M C Lecomte, D Dhermy, et al.
Human Genetics|January 1, 1985
Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosisM C Lecomte, D Dhermy, M Garbarz, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyriaC Picat, M H Delfau, F W de Rooij, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 1, 1989
Tissue-specific splicing mutation in acute intermittent porphyriaB Grandchamp, C Picat, V Mignotte, et al.
Human Genetics|December 1, 1987
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expressionM C Lecomte, D Dhermy, M Garbarz, et al.
The Journal of Clinical Investigation|November 1, 1990
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyriaM H Delfau, C Picat, F W de Rooij, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
European Journal of Clinical Investigation|October 1, 1989
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminaseB Grandchamp, C Picat, R Kauppinen, et al.
The Journal of Clinical Investigation|July 1, 1991
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 mutationM Garbarz, W T Tse, P G Gallagher, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 1, 1989
[Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant]M Garbarz, I Devaux, B Grandchamp, et al.
Blood|April 15, 1990
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 domainM Garbarz, M C Lecomte, C Féo, et al.
Blood|June 1, 1986
Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosisM Garbarz, M C Lecomte, D Dhermy, et al.
Human Genetics|January 1, 1985
Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosisM C Lecomte, D Dhermy, M Garbarz, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyriaC Picat, M H Delfau, F W de Rooij, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 1, 1989
Tissue-specific splicing mutation in acute intermittent porphyriaB Grandchamp, C Picat, V Mignotte, et al.
Human Genetics|December 1, 1987
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expressionM C Lecomte, D Dhermy, M Garbarz, et al.
The Journal of Clinical Investigation|November 1, 1990
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyriaM H Delfau, C Picat, F W de Rooij, et al.
Pageof 4