• Media type: E-Article
  • Title: ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation
  • Contributor: Sarkozy, Anna; Hicks, Debbie; Hudson, Judith; Laval, Steve H.; Barresi, Rita; Hilton-Jones, David; Deschauer, Marcus; Harris, Elizabeth; Rufibach, Laura; Hwang, Esther; Bashir, Rumaisa; Walter, Maggie C.; Krause, Sabine; van den Bergh, Peter; Illa, Isabel; Pénisson-Besnier, Isabelle; De Waele, Liesbeth; Turnbull, Doug; Guglieri, Michela; Schrank, Bertold; Schoser, Benedikt; Seeger, Jürgen; Schreiber, Herbert; Gläser, Dieter; [...]
  • Published: Hindawi Limited, 2013
  • Published in: Human Mutation, 34 (2013) 8, Seite 1111-1118
  • Language: English
  • DOI: 10.1002/humu.22342
  • ISSN: 1059-7794
  • Origination:
  • Footnote: