Ciliopathies
Ciliopathies
About this item
Full title
Author / Creator
Publisher
Waltham, MA: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
Waltham, MA: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
A ciliopathy is a disease in which a hairlike cellular organelle called the cilium is dysfunctional. Most proteins altered in these single-gene disorders function at the level of the cilium–centrosome complex. This review considers the role of the cilium in disease.
Diverse developmental and degenerative single-gene disorders such as polycystic...
Alternative Titles
Full title
Ciliopathies
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3640822
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3640822
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMra1010172
