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Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region

✍ Scribed by Arnon Broides; Bettina H. Ault; Marie-Françoise Arthus; Daniel G. Bichet; Mary Ellen Conley


Book ID
113539412
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
232 KB
Volume
120
Category
Article
ISSN
1090-2341

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The function of small GTPases is fine-tuned by a complex network of regulatory proteins such as GTPase-activating proteins. The C1 gene at Xq28 encodes a protein assumed to function as a Rho GTPase-activating protein (rhoGAP). Characterization of the molecular defect causing X-linked nephrogenic dia