The Molecular Basis of Glucose 6-Phosphate Dehydrogenase Deficiency - Busuttil, David Paul
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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…mehr

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Produktbeschreibung
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 comprehensive approach to this subject should be of interest to medical students, haematologists, laboratory scientists and molecular biologists.
Autorenporträt
Dr Busuttil graduated from the University of Malta in 1987 and did his post-graduate training in the UK. He practised as a Consultant Haematologist in the UK and in Malta, where he founded the Clinical Haematology services. He is a Senior Lecturer at the University of Malta and has more than 20 publications in international peer reviewed journals.