Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities

OBJECTIVE: To determine whether individuals with primary ciliary dyskinesia (PCD) from unrelated Amish and Mennonite families harbor a single and unique founder mutation. STUDY DESIGN: Subjects from Amish and Mennonite communities in several states were enrolled in the study. All subjects were clini...

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Autors principals: Ferkol, Thomas W., Puffenberger, Erik G., Lie, Hauw, Helms, Cynthia, Strauss, Kevin A., Bowcock, Anne, Carson, John L., Hazucha, Milan, Morton, D. Holmes, Patel, Anand C., Leigh, Margaret W., Knowles, Michael R., Zariwala, Maimoona A.
Format: Artigo
Idioma:Inglês
Publicat: 2013
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3725203/
https://ncbi.nlm.nih.gov/pubmed/23477994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2013.01.061
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