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Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel ß-subunit in a case of early-onset phenotype of Liddle syndrome.
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.
Affiliation
  • Polfus LM; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas 70130, USA.
  • Boerwinkle E; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas 70130, USA;; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 70130, USA.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 70130, USA.
  • Metcalf G; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 70130, USA.
  • Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 70130, USA.
  • Veeraraghavan N; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 70130, USA.
  • Grove M; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas 70130, USA.
  • Shete S; Department of Biostatistics, MD Anderson Cancer Center, The University of Texas Health Science Center, Houston, Texas 77030, USA.
  • Wallace S; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center, Houston, Texas 77030, USA.
  • Milewicz D; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center, Houston, Texas 77030, USA.
  • Hanchard N; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 70130, USA.
  • Lupski JR; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 70130, USA.
  • Hashmi SS; Department of Pediatrics, Children's Memorial Hermann Hospital, The University of Texas Health Science Center, Houston, Texas, Medical School, Texas 77030, USA.
  • Gupta-Malhotra M; Department of Pediatric Cardiology, Johns Hopkins All Children's Hospital, St. Petersburg, Florida 33701, USA.
Cold Spring Harb Mol Case Stud ; 2(6): a001255, 2016 11.
Article in En | MEDLINE | ID: mdl-27900368
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epithelial Sodium Channels / Liddle Syndrome Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2016 Type: Article Affiliation country: United States
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epithelial Sodium Channels / Liddle Syndrome Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2016 Type: Article Affiliation country: United States