Titre:
  • Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Auteur:Moreira, M-C; Klur, Sandra; Watanabe, Mitsunori; Németh, Andrea H; Le Ber, Isabelle; Moniz, José-Carlos; Tranchant, Christine; Aubourg, Patrick; Tazir, Meriem; Schöls, Lüdger; Pandolfo, Massimo; Schulz, Jörg Bernhard; Pouget, Jean; Calvas, Patrick; Shizuka-Ikeda, Masami; Shoji, Mikio; Tanaka, Makoto; Izatt, Louise; Shaw, Christopher E; M'Zahem, Abderrahim; Dunne, Eimear; Bomont, Pascale; Benhassine, Traki; Bouslam, Naïma; Stevanin, Giovanni; Brice, Alexis; Guimarães, João; Mendonça, P; Barbot, C; Coutinho, P; Sequeiros, Jorge; Dürr, Alexandra; Warter, Jean-Marie; Koenig, Michel
Informations sur la publication:Nature genetics, 36, 3, page (225-227)
Statut de publication:Publié, 2004-03
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Cerebellar Ataxia -- genetics
Chromosome Mapping
Chromosomes, Human, Pair 9
Fungal Proteins -- genetics
Humans
Mutation
Ocular Motility Disorders -- genetics
RNA Helicases -- genetics
Saccharomyces cerevisiae Proteins -- genetics
alpha-Fetoproteins -- metabolism
Note générale:Journal Article
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:1061-4036
info:doi/10.1038/ng1303
info:pii/ng1303
info:scp/10744230604
info:pmid/14770181