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Hb St. Jozef, A Val-->Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in Cis with a -alpha3.7 thalassemia deletion

Autor: Harteveld, Cl, Versteegh, Fg, Vanleer, Eh, Starreveld, Js, Kok, Pj, Vanrooijen-Nijdam, I., Vandelft, P., Zanella-Cleon, I., Becchi, M., Wajcman, H., Giordano, Pc

We report a new hemoglobin (Hb) variant found in a 6-year-old girl of Moroccan origin, living in the Dutch city of Gouda. The child was referred because of microcytic and hypochromic parameters. A normal zinc protoporphyirin (ZPP) value excluded iron

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______166::0957d2dd01053d845bae2e8bb77a6889
https://hal.archives-ouvertes.fr/hal-00315124

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