Exome sequencing in suspected monogenic dyslipidemias
- Autori: Stitziel, N.; Peloso, G.; Abifadel, M.; Cefalu, A.; Fouchier, S.; Motazacker, M.; Tada, H.; Larach, D.; Awan, Z.; Haller, J.; Pullinger, C.; Varret, M.; Rabès, J.; Noto, D.; Tarugi, P.; Kawashiri, M.; Nohara, A.; Yamagishi, M.; Risman, M.; Deo, R.; Ruel, I.; Shendure, J.; Nickerson, D.; Wilson, J.; Rich, S.; Gupta, N.; Farlow, D.; Neale, B.; Daly, M.; Kane, J.; Freeman, M.; Genest, J.; Rader, D.; Mabuchi, H.; Kastelein, J.; Hovingh, G.; Averna, M.; Gabriel, S.; Boileau, C.; Kathiresan, S.
- Anno di pubblicazione: 2015
- Tipologia: Articolo in rivista (Articolo in rivista)
- Parole Chiave: DNA sequencing; exome; genetics; human; lipids
- OA Link: http://hdl.handle.net/10447/127406
Abstract
Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias.