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The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.

Waters, AM; Asfahani, R; Carroll, P; Bicknell, L; Lescai, F; Bright, A; Chanudet, E; ... Beales, PL; + view all (2015) The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet , 52 (3) 147 - 156. 10.1136/jmedgenet-2014-102691. Green open access

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Abstract

Mutations in microtubule-regulating genes are associated with disorders of neuronal migration and microcephaly. Regulation of centriole length has been shown to underlie the pathogenesis of certain ciliopathy phenotypes. Using a next-generation sequencing approach, we identified mutations in a novel centriolar disease gene in a kindred with an embryonic lethal ciliopathy phenotype and in a patient with primary microcephaly.

Type: Article
Title: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/jmedgenet-2014-102691
Publisher version: http://dx.doi.org/10.1136/jmedgenet-2014-102691
Language: English
Additional information: This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/
Keywords: CENPF, Ciliopathy, Clinical genetics, Microcephaly, Molecular genetics
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Nephrology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
URI: http://discovery.ucl.ac.uk/id/eprint/1460323
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