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Article

A rare G6PD variant (c.383T>G; p.128Leu>Arg) with a molecular pathophysiological mechanism similar to that of G6PD A- (68Val>Met, 126Asn>Asp).

Blood cells, molecules & diseases - 1 Jan 2000

Moradkhani Kamran, Bahuau Michel, Préhu Claude, Martin Natacha, Bimet Catherine, Galactéros Frederic, Wajcman Henri

Abstract excerpt

We report the second documented observation of a rare class-III variant, we named G6PD Pyrgos, [c.383 T>G, p.128Leu>Arg] found in a Greek family. A 3-dimensional structure model for the enzyme shows that the region modified by the substitution is identical to that modified in G6PD A(-) (68Val>Met, 126Asn>Asp), suggesting a common underlying pathophysiological mechanism. Observation of this mutation in different...

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PMID: 19632868
DOI: 10.1016/j.bcmd.2009.05.007

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