A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an α2 globin gene variant (Hb Conakry)

Michel Cohen‐Solal, Claude Préhu, Henri Wajcman, +6

British Journal of Haematology

Hbs PolymerizationGeneticsPathologyHb ConakrySer 130 +14

Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris).

Colette Valentin, Serge Pissard, Josiane Martin, +8

PubMed

Isolation and characterization of the gene encoding the muscle-specific isozyme of human phosphoglycerate mutase

J. Castellà-Escolà, David M. Ojcius, Philippe Leboulch, +7

Gene

Cellular EnzymologyBiochemistrySkeletal MuscleGeneticsPhysiology +8

Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France

H Rouger, Colette Valentin, Constantin T. Craescu, +2

British Journal of Haematology

Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5?-nucleotidase

R Rosa, H Rochant, B Dreyfus, +2

Human Genetics

Human Erythrocytes DeficientBiochemistryHeme HomeostasisNatural SciencesBioanalysis +9

A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: Mechanism of mutation and structure–function relationships

Colette Valentin, Henrik Birgens, Constantin T. Craescu, +2

Human Mutation

Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q34→7q22

F. Barichard, V. Joulin, Isabelle Henry, +5

Human Genetics

Developmental BiologyChromosomal AssignmentCytogeneticsGenetic DisorderGenetics +7

The Human Alpha-Globin Gene. The Protein Products of the Duplicated Genes Are Identical

J. Földi, Michel COHEN‐SOLAL, Colette Valentin, +3

European Journal of Biochemistry

Alpha-chain AbnormalityGeneticsProtein ProductsMolecular BiologyMolecular Genetics +14

Electrophoretic characterization of pyrimidine 5'-nucleotidase of human erythrocytes and its distinction from acid phosphatase

R Rosa, Colette Valentin, Jean Rosa

Clinica Chimica Acta

Acid PhosphataseBiochemistryNatural SciencesBioanalysisMolecular Biology +7

Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes

Colette Valentin, Michel Cohen‐Solal, Lynne E. Maquat, +3

Comptes Rendus de l Académie des Sciences - Series III - Sciences de la Vie

Allelic VariantDistinct Clinical PhenotypesGenetic DisorderGeneticsMolecular Biology +7