Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

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Published in Proc Natl Acad Sci U S A on July 25, 2002

Authors

Lucia Bartoloni1, Jean-Louis Blouin, Yanzhen Pan, Corinne Gehrig, Amit K Maiti, Nathalie Scamuffa, Colette Rossier, Mark Jorissen, Miguel Armengot, Maggie Meeks, Hannah M Mitchison, Eddie M K Chung, Celia D Delozier-Blanchet, William J Craigen, Stylianos E Antonarakis

Author Affiliations

1: Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland.

Associated clinical trials:

Diagnosis of Primary Ciliary Dyskinesia (DCP) | NCT00783887

Dyskinesia, Heterotaxy and Congenital Heart Disease | NCT00608556

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