GRACILE syndrome is caused by a point mutation in BCS1L suggesting a new role of the BCS1L in iron metabolism (2002)

Author(s): Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L

      • Date: 15-19 October 2002
      • Conference Name: American Journal of Human Genetics: 52nd Annual Meeting of the American Society of Human Genetics
      • Volume: 71 (4, s)
      • Pages: 209 abstract no. 231
      • Publisher: Cell Press
      • Publication type: Conference Proceedings (inc. abstract)
      • Bibliographic status: Published



        Professor Robert Taylor
        Professor of Mitochondrial Pathology