Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus

Nonsyndromic patent ductus arteriosus (PDA) is a common congenital heart defect (CHD) with both inherited and acquired causes, but the disease mechanisms have remained elusive. Using combined genome-wide linkage analysis and whole-exome sequencing (WES), we identified independent mutations in PRDM6,...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Li, Na, Subrahmanyan, Lakshman, Smith, Emily, Yu, Xiaoqing, Zaidi, Samir, Choi, Murim, Mane, Shrikant, Nelson-Williams, Carol, Bahjati, Mohadesseh, Kazemi, Mohammad, Hashemi, Mohammad, Fathzadeh, Mohsen, Narayanan, Anand, Tian, Likun, Montazeri, Farhad, Mani, Mitra, Begleiter, Michael L., Coon, Brian G., Lynch, Henry T., Olson, Eric N., Zhao, Hongyu, Ruland, Jürgen, Lifton, Richard P., Mani, Arya
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4908195/
https://ncbi.nlm.nih.gov/pubmed/27181681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.03.022
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