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Neuroacanthocytosis Syndromes II (v. 2)
by
Binding: Hardcover, 1 edition, 295 pages
Publisher: Springer
List Price: USD $189.00
Weight: 150
Dimension: H: 0.75 x L: 9.4 x W: 0.5 inches
ISBN 10: 3540716920
ISBN 13: 9783540716921
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Book Description:
This book contains the latest research regarding the neurodegenerative conditions known as neuroacanthocytosis. Recent advances have identified the range of mutations in the causative genes, shedding light on potential phenotype genotype correlations. In vitro studies have identified potential protein interactions, which have important implications for pathophysiology, and work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated which greatly facilitate understanding the significance of gene mutations in humans, and provide the foundation for possible therapeutic interventions.

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