Výsledky vyhledávání - "George L. Boxma"

Hb Zoetermeer: A New Mutation on the α2 Gene Inducing an Ala→Ser Substitution at Codon 21 is Possibly Associated with a Mild Thalassemic Phenotype

Autor: Henri Wajcman, Willem C. H. Van Helden, Cornelis L. Harteveld, Peter van Delft, Michel Becchi, Isabelle Zanella-Cléon, Piero C. Giordano, Margaretha Bakker-Verweij, George L. Boxma

Publikováno v: Hemoglobin. 31:325-332

A 52-year-old Dutch male was referred to our laboratory for hemoglobinopathy analysis because of persistent microcytic hypochromic parameters and moderate erythrocytosis in the absence of iron deficiency. The hemoglobin (Hb) pattern was normal and br

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e24af70051c49eaa4a7baf2cc4a6b82
https://doi.org/10.1080/03630260701459374

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A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW))

Autor: George L. Boxma, Andrea C. de Bruin-Roest, Willem C. H. Van Helden, Piero C. Giordano, Ingrid P. Vogelaar, Sandra G.J. Arkesteijn, Cornelis L. Harteveld, Rianne Schaap, Marion Phylipsen, Irene C.M. Wildschut

Publikováno v: Blood Cells, Molecules and Diseases, 45, 2, pp. 133-5
Blood Cells, Molecules and Diseases, 45, 133-5
Blood Cells, Molecules and Diseases

Alpha-thalassemia is an inherited hemoglobin disorder characterized by a microcytic hypochromic anemia caused by a quantitative reduction of the alpha-globin chain. The majority of the alpha-thalassemias is caused by deletions in the alpha-globin gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab98e76a593a42a3eb1ce028d6e3a38
https://hdl.handle.net/2066/87813

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