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Molecular genetics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene

✍ Scribed by A. Rovira; T. Vulliamy; M. A. Pujades; L. Luzzatto; J. Ll. Vives

Book ID
114714197
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
643 KB
Volume
91
Category
Article
ISSN
0007-1048

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✍ Maria-Odete Rodrigues; Júlia Dias Pereira; Gisela Gaspar; Gabriel Olim; Maria-do 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 1 views

## 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