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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 cl...

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Source

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Identifiers

PMID: 23477994
DOI: 10.1016/j.jpeds.2013.01.061
PMCID: PMC3725203

Genes

DNAH5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23477994-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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