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Primary AMP deaminase deficiency in childhood

✍ Scribed by C. Bruno; C. Minetti; S. Shanske; M. Bado; G. Cordone; S. DiMauro


Book ID
117670802
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
260 KB
Volume
7
Category
Article
ISSN
0960-8966

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πŸ“œ SIMILAR VOLUMES


Deficiency of AMP deaminase in erythrocy
✍ N. Ogasawara; H. Goto; Y. Yamada; I. Nishigaki; T. Itoh; I. Hasegawa; K. S. Park πŸ“‚ Article πŸ“… 1987 πŸ› Springer 🌐 English βš– 417 KB

Six individuals with complete deficiency of erythrocyte AMP deaminase have been discovered. They are all healthy and have no hematological disorders. The deficiency is only in isozyme E, which is the erythrocyte type isozyme, and is inherited as an autosomal recessive trait. The frequency of the mut