Publication
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
Daniela A. Braun, Markus Schueler, Jan Halbritter, Heon Yung Gee, Jonathan D. Porath, Jennifer A. Lawson, Rannar Airik, Shirlee Shril, Susan J. Allen, Deborah Stein, Adila Al Kindy, Bodo B. Beck, Nurcan Cengiz, Khemchand N. Moorani, Fatih Ozaltin, Seema Hashmi, John A. Sayer, Detlef Bockenhauer, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Friedhelm Hildebrandt
Kidney International, February 2016, Elsevier
DOI: 10.1038/ki.2015.317