A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

Lionel Arnaud, Carole Saison, Virginie Helias, +20

The American Journal of Human Genetics

Transcriptional RegulationDevelopmental BiologyGenetic DisorderGeneticsInherited Metabolic Disease +8

Cation-exchange HPLC evaluated for presumptive identification of hemoglobin variants

J. Riou, Christian Godart, Didier Hurtrel, +6

Clinical Chemistry

ImmunohematologyCation-exchange HplcLaboratory HematologyBiochemistryVariant Interpretation +13

Covalent binding of glutathione to hemoglobin. I. Inhibition of hemoglobin S polymerization.

M.C. Garel, Chantal Domenget, Josiane Caburi-Martin, +3

Journal of Biological Chemistry

Cation-exchange HPLC evaluated for presumptive identification of hemoglobin variants.

J. Riou, Christian Godart, Didier Hurtrel, +6

PubMed

Cation-exchange HplcGeneticsGenetic EpidemiologyPathologyMolecular Biology +16

Glucose-6-Phosphate Dehydrogenase Deficiency and Homozygous Sickle Cell Disease in Congo

Jean Claude Bouanga, R. Mouélé, Claude Préhu, +3

Human Heredity

Disturbance in the HIF-1α pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

Maha Al-Sheikh, Kamran Moradkhani, Marc Lopez, +2

Blood Cells Molecules and Diseases

Transcriptional RegulationFurther EvidencesHeme HomeostasisGeneticsHeme Signaling +6

Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations

Dimitri Tchernitchko, Mihelaiti Chiminqgi, Frederic Galactéros, +5

European Journal of Human Genetics

GeneticsGenetic EpidemiologyBiostatisticsHigh FrequencyPublic Health +1

Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants

Kamran Moradkhani, Claude Préhu, John Old, +7

Annals of Hematology

Molecular Analysis of the Rare In(Lu) Blood Type: Toward Decoding the Phenotypic Outcome of Haploinsufficiency for the Transcription Factor KLF1

Virginie Helias, Carole Saison, Thierry Peyrard, +4

Human Mutation

Blood TypeAllelic VariantKlf1 HaploinsufficiencyHeme HomeostasisGenetics +12

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