Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome

To comprehensively evaluate a European–American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a mu...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Polfus, Linda M., Boerwinkle, Eric, Gibbs, Richard A., Metcalf, Ginger, Muzny, Donna, Veeraraghavan, Narayanan, Grove, Megan, Shete, Sanjay, Wallace, Stephanie, Milewicz, Dianna, Hanchard, Neil, Lupski, James R., Hashmi, Syed Shahrukh, Gupta-Malhotra, Monesha
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2016
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5111009/
https://ncbi.nlm.nih.gov/pubmed/27900368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001255
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