Schutte, Clara-Maria; Dorfling, Cecilia Maria; Van Coller, Riaan; Honey, E.M.; Van Rensburg, Elizabeth J.
(Health and Medical Publishing Group, 2015-07)
Autosomal dominantly inherited oculopharyngeal muscular dystrophy (OPMD) is caused by a trinucleotide repeat expansion in exon 1 of the
polyadenylate binding protein nuclear 1 (PABPN1) gene on chromosome 14q. A large ...