Titre:
  • RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
Auteur:Jeanson, Ludovic; Copin, Bruno; Papon, Jean François; Dastot-Le Moal, Florence; Duquesnoy, Philippe; Montantin, Guy; Cadranel, Jacques; Corvol, Harriet; Coste, André; Désir, Julie; Souayah, Anissa; Kott, Esther; Collot, Nathalie; Tissier, Sylvie; Louis, Bruno; Tamalet, Aline; de Blic, Jacques; Clement, Annick; Escudier, Estelle; Amselem, Serge; Legendre, Marie
Informations sur la publication:American journal of human genetics, 97, 1, page (153-162)
Statut de publication:Publié, 2015
Sujet CREF:Génétique clinique
Biologie
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0002-9297
info:doi/10.1016/j.ajhg.2015.05.004
info:pii/S0002929715001901
info:scp/84937516688
info:pmid/26073779