Article
Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
The Journal of pediatrics - 1 Aug 2013
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
Abstract excerpt
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 clinically characterized, and nasal nitric oxide levels were measured. Nasal epithelial scrapings were collected from...
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