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A Homozygous Mutation on the HBA1 Gene Coding for Hb Charlieu (HBA1: c.320T>C) Together with β-Thalassemia Trait Results in Severe Hemolytic Anemia.
Klei TRL, Kheradmand Kia S, Veldthuis M, Dehbozorgian J, Karimi M, Geissler J, Sellink E, Thiel-Valkhof M, Burger P, van Alphen F, Meijer AB, van Bruggen R, van Zwieten R. Klei TRL, et al. Among authors: geissler j. Hemoglobin. 2019 Mar;43(2):77-82. doi: 10.1080/03630269.2019.1601107. Epub 2019 Jun 13. Hemoglobin. 2019. PMID: 31190578
MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization.
Sprenkeler EGG, Henriet SSV, Tool ATJ, Kreft IC, van der Bijl I, Aarts CEM, van Houdt M, Verkuijlen PJJH, van Aerde K, Jaspers G, van Heijst A, Koole W, Gardeitchik T, Geissler J, de Boer M, Tol S, Bruggeman CW, van Alphen FPJ, Verhagen HJMP, van den Akker E, Janssen H, van Bruggen R, van den Berg TK, Liem KD, Kuijpers TW. Sprenkeler EGG, et al. Among authors: geissler j. Blood. 2020 Jun 11;135(24):2171-2181. doi: 10.1182/blood.2019002633. Blood. 2020. PMID: 32128589 Free article.
191 results