• Profile
Close

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

Pediatric Nephrology Aug 25, 2017

Vivante A, et al. – In order to detect whether exome sequencing in Jewish and Arab patients with rhabdomyolysis revealed single–gene etiology in 43% of cases, experts undertook this work. A very high detection rate for monogenic etiologies using Whole exome sequencing (WES) was discovered. Data unearthed broad genetic heterogeneity for rhabdomyolysis. As per the observations, molecular genetic diagnostics were crucial for establishing an etiologic diagnosis. WES permitted adequate prophylaxis and treatment for these patients and their family members and enabled a personalized medicine approach, in view of the risk for recurrent episodes of rhabdomyolysis and subsequent risk for AKI in these subjects.
Go to Original
Only Doctors with an M3 India account can read this article. Sign up for free or login with your existing account.
4 reasons why Doctors love M3 India
  • Exclusive Write-ups & Webinars by KOLs

  • Nonloggedininfinity icon
    Daily Quiz by specialty
  • Nonloggedinlock icon
    Paid Market Research Surveys
  • Case discussions, News & Journals' summaries
Sign-up / Log In
x
M3 app logo
Choose easy access to M3 India from your mobile!


M3 instruc arrow
Add M3 India to your Home screen
Tap  Chrome menu  and select "Add to Home screen" to pin the M3 India App to your Home screen
Okay