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Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the “old” and update of the new mutations

✍ Scribed by Angelo Minucci; Kamran Moradkhani; Ming Jing Hwang; Cecilia Zuppi; Bruno Giardina; Ettore Capoluongo

Book ID: 116304925
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 391 KB
Volume: 48
Category: Article
ISSN: 1079-9796
DOI: 10.1016/j.bcmd.2012.01.001

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## Abstract In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a “moderate rate of G6PD deficiency” (12.6% of the normal activity) according