Diagnostic application of exome sequencing in chinese children with suspected inherited kidney diseases

HIGHLIGHTS

• who: . et al. from the University of Catania, Italy have published the research: Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases, in the Journal: (JOURNAL)
• what: The authors present an investigation of causative gene variations in a well-characterized clinical cohort of 149 unrelated patients with urinalysis abnormalities or structural abnormalities from Shandong, a northern province in China, using exome sequencing. The authors investigated the genetic cause of 149 child probands with clinically suspected IKDs or unexplained proteinuria or/and hematuria using exome sequencing. In this study, the 55 probands . . .
  

   

  

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