Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
全外显子组测序可识别出大多数近亲或家族性儿童期发病肾脏回声增强病例的致病突变。
期刊:Kidney International
影响因子:14.8
doi:10.1038/ki.2015.317.
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