Yayıncı "Pergamon-Elsevier Science Ltd" Temel Tıp Bilimleri Bölümü için listeleme

Toplam kayıt 1, listelenen: 1-1

    • Mutation In Tor1Aip1 Encoding Lap1B In A Form Of Muscular Dystrophy: A Novel Gene Related To Nuclear Envelopathies 

      Kayman-Kurekci, Gulsum; Talim, Beril; Korkusuz, Petek; Sayar, Nilufer; Sarioglu, Turkan; Oncel, Ibrahim; Sharafi, Parisa; Gundesli, Hulya; Balci-Hayta, Burcu; Purali, Nuhan; Serdaroglu-Oflazer, Piraye; Topaloglu, Haluk; Dincer, Pervin (Pergamon-Elsevier Science Ltd, 2014)
      We performed genome-wide homozygosity mapping and mapped a novel myopathic phenotype to chromosomal region 1q25 in a consanguineous family with three affected individuals manifesting proximal and distal weakness and atrophy, ...