Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)

od Glover, Mark, Ware, James S., Henry, Amanda, Wolley, Martin, Walsh, Roddy, Wain, Louise V., Xu, Shengxin, Van’t Hoff, William G., Tobin, Martin D., Hall, Ian P., Cook, Stuart, Gordon, Richard D., Stowasser, Michael, O’Shaughnessy, Kevin M.
Izdano 2014

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative...

od Hannan, Fadil M., Howles, Sarah A., Rogers, Angela, Cranston, Treena, Gorvin, Caroline M., Babinsky, Valerie N., Reed, Anita A., Thakker, Clare E., Bockenhauer, Detlef, Brown, Rosalind S., Connell, John M., Cook, Jacqueline, Darzy, Ken, Ehtisham, Sarah, Graham, Una, Hulse, Tony, Hunter, Steven J., Izatt, Louise, Kumar, Dhavendra, McKenna, Malachi J., McKnight, John A., Morrison, Patrick J., Mughal, M. Zulf, O'Halloran, Domhnall, Pearce, Simon H., Porteous, Mary E., Rahman, Mushtaqur, Richardson, Tristan, Robinson, Robert, Scheers, Isabelle, Siddique, Haroon, van't Hoff, William G., Wang, Timothy, Whyte, Michael P., Nesbit, M. Andrew, Thakker, Rajesh V.
izdano v Hum Mol Genet (2015)