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Publication:

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy (2009)

Author(s): Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu Wai Man P, Chinnery PF, Wissinger B

      • Date: 01-02-2009
      • Journal: Journal of Medical Genetics
      • Volume: 46
      • Issue: 2
      • Pages: 136-144
      • Publisher: BMJ Publishing Group
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: CHROMOSOME 3Q REGION LINKAGE ANALYSIS MUTATIONS GENE CHILDHOOD DISEASE

      Staff

      Professor Patrick Chinnery
      Wellcome Senior Fellow in Clinical Science and Professor of Neurogenetics