De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Congenital heart disease (CHD) has a complex genetic etiology, and recent studies suggest that high penetrance de novo mutations may account for only a small fraction of disease. In a multi-institutional cohort surveyed by exome sequencing, combining analysis of 987 individuals (discovery cohort of...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, Vivek Nanda, Ramendra Kundu, Kathleen Schultz, Edward J Lammer, Santhosh Girirajan, Todd Scheetz, Daryl Waggott, Francois Haddad, Sushma Reddy, Daniel Bernstein, Trudy Burns, Jeffrey D Steimle, Xinan H Yang, Ivan P Moskowitz, Matthew Hurles, Richard P Lifton, Debbie Nickerson, Michael Bamshad, Evan E Eichler, Seema Mital, Val Sheffield, Thomas Quertermous, Bruce D Gelb, Michael Portman, Euan A Ashley
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science (PLoS) 2016-04-01
Colecção:PLoS Genetics
Acesso em linha:http://europepmc.org/articles/PMC4825975?pdf=render
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados