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Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis

✍ Scribed by Mora-Lopez, Francisco; Bernal-Quiros, Manuel; Lechuga-Sancho, Alfonso M.; Lechuga-Campoy, Jose Luis; Hernandez-Trujillo, Nestor; Nieto, Antonio


Book ID
113042740
Publisher
Springer
Year
2012
Tongue
English
Weight
227 KB
Volume
171
Category
Article
ISSN
0340-6997

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We investigated whether mutations in the genes that code for the different subunits of the amiloridesensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could be potentially explained by an ENaC mutation by a M