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G-6PD “ankara”. A new G-6PD variant with deficiency found in a Turkish family

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Summary

A new G-6PD variant with enzyme deficiency is described in a 7-month-old Turkish boy without any hemolytic manifestation, except neonatal hyperbilirubinemia. The main characteristics of this variant were the following: Severe enzyme deficiency in erythrocytes (8% of normal), fast starch-gel-electrophoretic mobility (110% of normal), increased Ki NADPH with respect to NADP+, slightly biphasic pH curve, enzyme instability, in vivo and in vitro, decreased molecular specific activity (58% of normal).

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References

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Author notes

  1. Axel Kahn

    Present address: Hôpital Beaujon, 92110, Clichy

Authors and Affiliations

  1. Université Paris VII et Unité 24 de l'INSERM Hôpital Beaujon, Clichy, France

    Axel Kahn, M. L. North, J. Messer & P. Boivin

  2. Laboratoire d'Immunochimie des protéines Centre de Transfusion Sanguine, Strasbourg, France

    Axel Kahn, M. L. North, J. Messer & P. Boivin

Authors
  1. Axel Kahn
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  2. M. L. North
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  3. J. Messer
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  4. P. Boivin
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Additional information

With the technical assistance of D. Cottreau and J. Marie

Chargé de recherche à l'INSERM

This work was supported by a grant of INSERM (ATP no 8 74-29).

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Kahn, A., North, M.L., Messer, J. et al. G-6PD “ankara”. A new G-6PD variant with deficiency found in a Turkish family. Hum Genet 27, 247–250 (1975). https://doi.org/10.1007/BF00278353

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  • DOI: https://doi.org/10.1007/BF00278353

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