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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Blanchon, Sylvain; Legendre, Marie; Copin, Bruno; Duquesnoy, Philippe; Montantin, Guy; Kott, Esther; Dastot, Florence; Jeanson, Ludovic; Cachanado, Marine; Rousseau, Alexandra; Papon, Jean François; Beydon, Nicole; Brouard, Jacques; Crestani, Bruno; Deschildre, Antoine; Désir, Julie; Dollfus, Hélène; Leheup, Bruno; Tamalet, Aline; Thumerelle, Caroline; Vojtek, Anne-Marie; Escalier, Denise; Coste, André; de Blic, Jacques; Clément, Annick; Escudier, Estelle; Amselem, Serge.
Afiliação
  • Blanchon S; Institut National de la Santé et de la Recherche Médicale UMR_S933, Université Pierre et Marie Curie - Paris 6, and Assistance Publique-Hôpitaux de Paris, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie Médicales, Paris, France.
J Med Genet ; 49(6): 410-6, 2012 Jun.
Article em En | MEDLINE | ID: mdl-22693285

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Síndrome de Kartagener Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2012 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Síndrome de Kartagener Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2012 Tipo de documento: Article