New sequencing technologies help revealing unexpected mutations in autosomal dominant hypercholesterolemia

HIGHLIGHTS

• who: Sandy Elbitar from the (UNIVERSITY) have published the Article: New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia, in the Journal: (JOURNAL) of 18/Oct/2017
• what: This work shows that Next-Generation Sequencing (exome, genome or targeted sequencing) are powerful tools to find new mutations and identify compound heterozygotes, which will lead to better diagnosis and treatment of ADH. The aim of the study was to investigate the genetic causes of ADH in French probands. The authors show that new sequencing technologies like exome sequencing are powerful tools to find new . . .
  

   

  

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