Variation in DNAH1 may contribute to primary ciliary dyskinesia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1186/s12881-015-0162-5/fulltext.html
Reference27 articles.
1. Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007;115(22):2814–21.
2. Zariwala MA, Omran H, Ferkol TW. The emerging genetics of primary ciliary dyskinesia. Proc Am Thorac Soc. 2011;8(5):430–3.
3. Ibanez-Tallon I, Gorokhova S, Heintz N. Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Hum Mol Genet. 2002;11(6):715–21.
4. Kosaki K, Ikeda K, Miyakoshi K, Ueno M, Kosaki R, Takahashi D, et al. Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. Am J Med Genet A. 2004;129A(3):308–11.
5. Rott HD. The Kartagener syndrome and the syndrome of immotile cilia. ZFA: Zeitschrift fur Allgemeinmedizin. 1980;56(6):382–6.
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