Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia-Reference-Cited by-同舟云学术

Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

Published:2013-08-06 Issue:10 Volume:34 Page:1352-1356
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Daniels M. Leigh Anne¹,Leigh Margaret W.²,Davis Stephanie D.²,Armstrong Michael C.¹,Carson Johnny L.²,Hazucha Milan¹,Dell Sharon D.³,Eriksson Maria⁴,Collins Francis S.⁵,Knowles Michael R.¹,Zariwala Maimoona A.⁶

Affiliation:

1. Department of Medicine; UNC School of Medicine; Chapel Hill; North Carolina

2. Department of Pediatrics; UNC School of Medicine; Chapel Hill; North Carolina

3. Department of Pediatrics; The Hospital for Sick Children; University of Toronto; Toronto; Ontario; Canada

4. Department of Biosciences and Nutrition; Center for Biosciences, Karolinska Institutet; Huddinge; Sweden

5. National Human Genome Research Institute; NIH; Bethesda; Maryland

6. Department of Pathology & Laboratory Medicine; UNC School of Medicine; Chapel Hill; North Carolina

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22371/fullpdf

Reference20 articles.

1. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms;Antony;Hum Mutat,2012

2. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children;Barbato;Eur Respir J,2009

3. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities;Castleman;Am J Hum Genet,2009

4. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia;Chilvers;J Allergy Clin Immunol,2003

5. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia;Horani;Am J Hum Genet,2012

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