Exome sequencing in suspected monogenic dyslipidemias

Maurizio Averna, Angelo Baldassare Cefalu', Deborah N. Farlow, Masa-Aki Kawashiri, Zuhier Awan, Daniel B. Larach, Jacques Genest, John J.P. Kastelein, Namrata Gupta, Hiroshi Mabuchi, M. Mahdi Motazacker, Gina M. Peloso, Rahul Deo, Catherine Boileau, Jorge F. Haller, Sigrid Fouchier, Nathan O. Stitziel, Marjorie Risman, Sekar Kathiresan, Mathilde VarretJay Shendure, Isabelle Ruel, G. Kees Hovingh, Jean-Pierre Rabès, Marianne Abifadel, Benjamin M. Neale, Clive R. Pullinger, Patrizia Tarugi, Atsushi Nohara, Deborah A. Nickerson, Daniel J. Rader, Stephen S. Rich, Mark J. Daly, Jorge F. Haller, Stacey Gabriel, Masakazu Yamagishi, Mason W. Freeman, John P. Kane, James G. Wilson, Hayato Tada, Davide Noto

Risultato della ricerca: Article

29 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)343-350
Numero di pagine8
RivistaCIRCULATION. CARDIOVASCULAR GENETICS
Volume8
Stato di pubblicazionePublished - 2015

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All Science Journal Classification (ASJC) codes

  • Genetics
  • Cardiology and Cardiovascular Medicine
  • Genetics(clinical)

Cita questo

Averna, M., Cefalu', A. B., Farlow, D. N., Kawashiri, M-A., Awan, Z., Larach, D. B., Genest, J., Kastelein, J. J. P., Gupta, N., Mabuchi, H., Motazacker, M. M., Peloso, G. M., Deo, R., Boileau, C., Haller, J. F., Fouchier, S., Stitziel, N. O., Risman, M., Kathiresan, S., ... Noto, D. (2015). Exome sequencing in suspected monogenic dyslipidemias. CIRCULATION. CARDIOVASCULAR GENETICS, 8, 343-350.