UCSF Pharmacogenetics of Membrane Transporters
Snp Publications
PMT SNP UID:3140
  1. Nicchia GP, Ficarella R, Rossi A, Giangreco I, Nicolotti O, Carotti A, Pisani F, Estivill X, Gasparini P, Svelto M, Frigeri A. D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness. Neuroscience. 2011 Sep 16. PMID: 21952128.
  2. Sorani MD, Zador Z, Hurowitz E, Yan D, Giacomini KM, Manley GT. Novel variants in human Aquaporin-4 reduce cellular water permeability. Hum Mol Genet. 2008 Aug 1;17(15):2379-89. PMID: 18511455.