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Identification of a Mutation in the Gene Encoding the Endosomal Adaptor Protein p14 (MAPBPIP) in a Novel Primary Immunodeficiency Syndrome

✍ Scribed by Jens Thiel


Book ID
113539792
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
45 KB
Volume
123
Category
Article
ISSN
1090-2341

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The SLC12A3 gene encodes the thiazide-sensitive Na-Cl co-transporter (NCCT) expressed in the apical membrane of the distal convoluted tubule of the kidney. Inactivating mutations of this gene are responsible for Gitelman syndrome (GS), a disorder inherited as an autosomal recessive trait. We searche