L'équipe Veitia a récemment publié un nouvel article dans Bio Essays :
Dominant negative variants and cotranslational assembly of macromolecular complexes
Résumé :
Pathogenic variants occurring in protein-coding regions underlie human genetic disease through various mechanisms. They can lead to a loss of function (LOF) such as in recessive conditions or in dominant conditions due to haploinsufficiency.…
