Exome Sequencing in Suspected Monogenic Dyslipidemias

BACKGROUND: Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We utilized this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. METHODS AND RESULTS: We performed exome sequencing on 213 selected family members from 41 kindreds with suspe...

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Udgivet i:Circ Cardiovasc Genet
Main Authors: Stitziel, Nathan O., Peloso, Gina M., Abifadel, Marianne, Cefalu, Angelo B., Fouchier, Sigrid, Motazacker, M. Mahdi, Tada, Hayato, Larach, Daniel B., Awan, Zuhier, Haller, Jorge F., Pullinger, Clive R., Varret, Mathilde, Rabès, Jean-Pierre, Noto, Davide, Tarugi, Patrizia, Kawashiri, Masa-aki, Nohara, Atsushi, Yamagishi, Masakazu, Risman, Marjorie, Deo, Rahul, Ruel, Isabelle, Shendure, Jay, Nickerson, Deborah A., Wilson, James G., Rich, Stephen S., Gupta, Namrata, Farlow, Deborah N., Neale, Benjamin M., Daly, Mark J., Kane, John P., Freeman, Mason W., Genest, Jacques, Rader, Daniel J., Mabuchi, Hiroshi, Kastelein, John J.P., Hovingh, G. Kees, Averna, Maurizio R., Gabriel, Stacey, Boileau, Catherine, Kathiresan, Sekar
Format: Artigo
Sprog:Inglês
Udgivet: 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4406825/
https://ncbi.nlm.nih.gov/pubmed/25632026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.114.000776
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