Browsing Temel Tıp Bilimleri Bölümü Makale Koleksiyonu by Author "Balci-Hayta, Burcu"
Now showing items 1-1 of 1
-
Clinical Long-Time Course, Novel Mutations And Genotype-Phenotype Correlation In A Cohort Of 27 Families With Pomt1-Related Disorders
Geis, Tobias; Rödl, Tanja; Topaloğlu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Kölbel, Heike (2019)Background The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the group of dystroglycanopathies characterized by a ...