An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipod...
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
About this item
Full title
Author / Creator
Weedon, Michael N , Ellard, Sian , Prindle, Marc J , Caswell, Richard , Allen, Hana Lango , Oram, Richard , Godbole, Koumudi , Yajnik, Chittaranjan S , Sbraccia, Paolo , Novelli, Giuseppe , Turnpenny, Peter , McCann, Emma , Goh, Kim Jee , Wang, Yukai , Fulford, Jonathan , McCulloch, Laura J , Savage, David B , O'Rahilly, Stephen , Kos, Katarina , Loeb, Lawrence A , Semple, Robert K and Hattersley, Andrew T
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Andrew Hattersley and colleagues show that an in-frame deletion in
POLD1
affecting the polymerase active site causes a multisystem disorder characterized by lipodystrophy, deafness and mandibular hypoplasia. This recurrent mutation abolishes DNA polymerase activity but only mildly impairs 3'- to 5'-exonuclease activity.
DNA polymerase δ, w...
Alternative Titles
Full title
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
Authors, Artists and Contributors
Author / Creator
Ellard, Sian
Prindle, Marc J
Caswell, Richard
Allen, Hana Lango
Oram, Richard
Godbole, Koumudi
Yajnik, Chittaranjan S
Sbraccia, Paolo
Novelli, Giuseppe
Turnpenny, Peter
McCann, Emma
Goh, Kim Jee
Wang, Yukai
Fulford, Jonathan
McCulloch, Laura J
Savage, David B
O'Rahilly, Stephen
Kos, Katarina
Loeb, Lawrence A
Semple, Robert K
Hattersley, Andrew T
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3785143
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3785143
Other Identifiers
ISSN
1061-4036,1546-1718
E-ISSN
1546-1718
DOI
10.1038/ng.2670
