The Molecular Basis of Glucose 6-Phosphate Dehydrogenase Deficiency
David Paul Busuttil
Broschiertes Buch

The Molecular Basis of Glucose 6-Phosphate Dehydrogenase Deficiency

From the Laboratory to the Clinic

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Glucose 6-Phosphate Dehydrogenase Deficiency is the most common enzymopathy and is of public health significance. The Glucose 6-Phosphate Dehydrogenase gene was sequenced and a new variant attributed to a point mutation was identified in an area of the gene conserved between various species. This was designated G6PD Telti. The molecular basis of Glucose 6-Phosphate Deficiency was elucidated through this novel variant. The clinical characteristics and laboratory features of Glucose 6-Phosphate Dehydrogenase Deficiency were also related to the molecular findings. The molecular techniques and the...