Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

Claudins are major components of tight junctions and contribute to the epithelial-barrier function by restricting free diffusion of solutes through the paracellular pathway. We have mapped a new locus for recessive renal magnesium loss on chromosome 1p34.2 and have identified mutations in CLDN19, a...

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Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Konrad, Martin, Schaller, André, Seelow, Dominik, Pandey, Amit V., Waldegger, Siegfried, Lesslauer, Annegret, Vitzthum, Helga, Suzuki, Yoshiro, Luk, John M., Becker, Christian, Schlingmann, Karl P., Schmid, Marcel, Rodriguez-Soriano, Juan, Ariceta, Gema, Cano, Francisco, Enriquez, Ricardo, Jüppner, Harald, Bakkaloglu, Sevcan A., Hediger, Matthias A., Gallati, Sabina, Neuhauss, Stephan C. F., Nürnberg, Peter, Weber, Stefanie
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The American Society of Human Genetics 2006
Θέματα:
Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698561/
https://ncbi.nlm.nih.gov/pubmed/17033971
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