Whole exome/genome sequencing joint analysis of a family with oligogenic familial hypercholesterolemia

HIGHLIGHTS

  • who: Youmna Ghaleb and colleagues from the Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, (PTS), , CNRS ERL, Centre de Recherche sur l'Inflammation, Paris, France have published the Article: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia, in the Journal: Metabolites 2022, 262 of 21/01/2022
  • what: The authors report here the first joint analysis of WES and WGS to identify ADH-causing genes in a French family. The functional analysis of the four LRP6 variants identified in this study showed contradictory results.
  • how . . .

     

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