Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]

HIGHLIGHTS

• who: René Wintjens from the patients in France have published the paper: Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S], in the Journal: (JOURNAL) of 21/Oct/2014
• what: This study explores the genetic background of ADH in France and, for the first time, the frequency of APOE variants in patients with a clinical diagnosis of ADH and the specific phenotypes according to the altered genes.
• how: For splicing predictions the authors used four algorithms to computationally score 5′ and 3′ splice sites. The . . .
  

   

  

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