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Diverse Point Mutations in the Human Glucose-6-phosphate Dehydrogenase Gene Cause Enzyme Deficiency and Mild or Severe Hemolytic Anemia

โœ Scribed by T. J. Vulliamy, M. D'Urso, G. Battistuzzi, M. Estrada, N. S. Foulkes, G. Martini, V. Calabro, V. Poggi, R. Giordano, M. Town, L. Luzzatto and M. G. Persico


Book ID
123636009
Publisher
National Academy of Sciences
Year
1988
Tongue
English
Weight
863 KB
Volume
85
Category
Article
ISSN
0027-8424

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Several mutations including two novel mu
โœ Ewa Jablonska-Skwiecinska; Irmina Lewandowska; Danuta Plochocka; Jacek Topczewsk ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 518 KB

## Communicated by Francesco Giannelli DNA sequencing revealed seven different glucose-6-phosphate dehydrogenase (G6PD) mutations in G6PD deficient subjects from 10 Polish families. Among them we found two novel mutations: 679CยฎT (G6PD Radlowo, class 2) and a 1006AยฎG (G6PD Torun, class 1). Variant