Publication:

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation (2012)

Author(s): Tan HL, Glen E, Topf A, Hall D, O'Sulliyan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM, Goodship JA, Keavney BD

      • Date: 14-02-2012
      • Journal: Human Mutation
      • Volume: 33
      • Issue: 4
      • Pages: 720-727
      • Publisher: John Wiley & Sons, Inc.
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: rare genetic variants congenital heart defects BMP SMAD BONE MORPHOGENETIC PROTEIN-2 HEART-DEFECTS OUTFLOW-TRACT FUNCTIONAL-CHARACTERIZATION NKX2.5 MUTATIONS I RECEPTORS DISEASE MOUSE BMP2 DIFFERENTIATION

      Staff

      Professor Helen Arthur
      Professor of Cardiovascular Biology

      Professor Judith Goodship
      Professor of Medical Genetics

      Dr Darroch Hall
      Technician

      Professor Bernard Keavney

      • Telephone: +44 (0) 191 241 8615

      Linda Sneddon
      Genetic Research Nurse

      Dr Ana Topf
      Research Associate