Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: Evidence for different origins of common mutations (2001)

Author(s): Witsch-Baumgartner M, Ciara E, Loffler J, Menzel HJ, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann GF, Fitzky BU, Mundy H, Clayton P, Kelley RI, Krajewska-Walasek M, Utermann G

      • Journal: European Journal of Human Genetics
      • Volume: 9
      • Issue: 1
      • Pages: 45-50
      • Publisher: Nature Publishing Group
      • Publication type: Article
      • Bibliographic status: Published

      Professor Sir John Burn
      Professor of Clinical Genetics