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Hematologically Important Mutations: Spectrin Variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis

✍ Scribed by Patrick G. Gallagher; Bernard G. Forget

Book ID
115589854
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
47 KB
Volume
22
Category
Article
ISSN
1079-9796

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Spectrin mutations in hereditary ellipto
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## Communicated b~ R. G. H. Cotton Hereditary elliptocytosis (HE), its aggravated form hereditary pyropoikilocytosis (HPP), and hereditary spherocytosis (HS) designate a set of congenital hemolytic syndromes. The responsible mutations lie in several genes encoding proteins of the red cell membrane