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Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3315610

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

About this item

Full title

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Publisher

New York: Nature Publishing Group US

Journal title

Nature genetics, 2012-04, Vol.44 (4), p.381-389

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

David Mitchell, Hannah Mitchison and colleagues identify a new
Chlamydomonas
protein required for the preassembly of axonemal dyneins before their transport into cilia. They further show that mutations in the homologous gene in humans result in primary ciliary dyskinesia accompanied by defects in the assembly of inner and outer dynein arms.

Alternative Titles

Full title

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3315610

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3315610

Other Identifiers

ISSN

1061-4036

E-ISSN

1546-1718

DOI

10.1038/ng.1106

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