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Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

1 Mar 2002

Abstract excerpt

Primary ciliary dyskinesia (PCD), also known as Kartagener's syndrome, is a human syndrome that results from ciliary dysfunction. This syndrome is characterized by recurrent respiratory infections, situs inversus and infertility. In some cases, hydrocephalus is also observed. We have characterized an insertional mutation in a mouse axonemal dynein heavy chain gene (Mdnah5) that reproduces most of the classical...

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PMID: 11912187
DOI: 10.1093/hmg/11.6.715

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