Blog
About

12
views
0
recommends
+1 Recommend
1 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Genetic testing for Huntington's disease in South Africa

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Related collections

          Most cited references 25

          • Record: found
          • Abstract: not found
          • Article: not found

          A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

           M. MacDonald (1993)
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

            We recently described a disorder termed Huntington disease-like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a gene involved in the formation of junctional membrane structures.
              Bookmark
              • Record: found
              • Abstract: not found
              • Article: not found

              A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington´s disease chromosomes.

              (1993)
                Bookmark

                Author and article information

                Contributors
                Role: ND
                Role: ND
                Journal
                samj
                SAMJ: South African Medical Journal
                SAMJ, S. Afr. med. j.
                Health and Medical Publishing Group (Cape Town )
                2078-5135
                March 2008
                : 98
                : 3
                : 193-194
                Affiliations
                [1 ] University of the Witwatersrand Johannesburg
                [2 ] University of Cape Town
                S0256-95742008000300017

                http://creativecommons.org/licenses/by/4.0/

                Product
                Product Information: SciELO South Africa
                Categories
                Health Care Sciences & Services
                Health Policy & Services
                Medical Ethics
                Medicine, General & Internal
                Medicine, Legal
                Medicine, Research & Experimental

                Comments

                Comment on this article