title: Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy.
authors.affiliation: Departments of Neurology and Orthopedic Surgery, Children's Hospital and Harvard Medical School, Boston, MA 02115; Department of Pediatrics, Carolinas Medical Center, Charlotte, NC 28232-2861, USA.
authors.forename: C C
authors.initials: CC
authors.lastname: Menache
authors.forename: C A
authors.initials: CA
authors.lastname: Brown
authors.forename: J H
authors.initials: JH
authors.lastname: Donnelly
authors.forename: F
authors.initials: F
authors.lastname: Shapiro
authors.forename: B T
authors.initials: BT
authors.lastname: Darras
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins; D012694:Serine; D013946:Thymopoietins / Q000235:genetics*; D014481:United States; D044465:White People / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin; D012694:Serine