Browsing Temel Tıp Bilimleri Bölümü by Publisher "Pergamon-Elsevier Science Ltd"
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Mutation In Tor1Aip1 Encoding Lap1B In A Form Of Muscular Dystrophy: A Novel Gene Related To Nuclear Envelopathies
(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, ...