Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation

Rationale: Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive, genetic disorder characterized by ciliary dysfunction, sino-pulmonary disease, and situs inversus. Disease-causing mutations have been reported in DNAI1 and DNAH5 encoding outer dynein arm (ODA) proteins of cilia. Ob...

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Autors principals: Zariwala, Maimoona A., Leigh, Margaret W., Ceppa, Franck, Kennedy, Marcus P., Noone, Peadar G., Carson, Johnny L., Hazucha, Milan J., Lori, Adriana, Horvath, Judit, Olbrich, Heike, Loges, Niki T., Bridoux, Anne-Marie, Pennarun, Gaëlle, Duriez, Bénédicte, Escudier, Estelle, Mitchison, Hannah M., Chodhari, Rahul, Chung, Eddie M. K., Morgan, Lucy C., de Iongh, Robbert U., Rutland, Jonathan, Pradal, Ugo, Omran, Heymut, Amselem, Serge, Knowles, Michael R.
Format: Artigo
Idioma:Inglês
Publicat: American Thoracic Society 2006
Matèries:
A. Airway Biology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2648054/
https://ncbi.nlm.nih.gov/pubmed/16858015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1164/rccm.200603-370OC
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