A family with partial deficiency of erythrocytic 6PGD is described. Biochemical and electrophoretic analysis suggest that the partial deficiency is due to a silent PGD0 allele. Chromosomal analysis and assay of closely linked markers do not reveal a grossly detectable deletion.
β¦ LIBER β¦
6-Phosphogluconate dehydrogenase deficiency in an Italian family
β Scribed by P. Caprari; M. P. Caforio; P. Cianciulli; D. Maffi; M. T. Pasquino; A. Tarzia; S. Amadori; A. M. Salvati
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 62 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0939-5555
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Partial deficiency of red cell 6-phospho
β
F. Ajmar; G. Lamedica; C. Garrè; R. Ravazzolo; M. Sessarego; A. Campostano
π
Article
π
1979
π
Springer
π
English
β 254 KB
Congenital 6-phosphogluconate dehydrogen
β
Corrons, J. Ll. Vives; Colomer, D.; Pujades, A.; Rovira, A.; Aymerich, M.; Merin
π
Article
π
1996
π
John Wiley and Sons
π
English
β 615 KB
Clinical and metabolic studies were performed in four members of a Spanish family with partial (50%) 6 phosphogluconate dehydrogenase (6PGD) deficiency. In all cases the activities of 6 phosphogluconolactone (6PGL) and glutathione reductase (GR) were normal, and the molecular characterization perfor
Combined erythrocyte glucosephosphate is
β
H. Arnold; G. W. LΓΆhr; K. Hasslinger; R. Ludwig
π
Article
π
1981
π
Springer
π
English
β 356 KB
6-Phosphogluconate dehydrogenase polymor
β
D. W. Cooper; R. M. Hope
π
Article
π
1971
π
Springer
π
English
β 198 KB
Maternal effect for genes encoding 6-pho
β
Gerasimova, T. I. ;Smirnova, S. G.
π
Article
π
1979
π
John Wiley and Sons
π
English
β 686 KB
X-linked glucose-6-phosphate dehydrogena
β
John L. VandeBerg; Mary Jo Aivaliotis; Paul B. Samollow
π
Article
π
1992
π
Springer
π
English
β 723 KB