# An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/an-in-frame-deletion-at-the-polymerase-active-site-of-pold1-causes-a-multisystem/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Michael N. Weedon,Sian Ellard,Marc J. Prindle,Richard Caswell,Hana Lango Allen,Richard A. Oram,Koumudi Godbole,Chittaranjan S. Yajnik,Paolo Sbraccia,Giuseppe Novelli,Peter D. Turnpenny,Emma McCann,Kim Jee Goh,Yukai Wang,Jonathan Fulford,Laura McCulloch,David B. Savage,Stephen O’Rahilly,Katarina Kos,Lawrence A. Loeb,Robert K. Semple,Andrew T. Hattersley |
| Citations | 186 |
| DOI | 10.1038/ng.2670 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | green |
| OA URL | https://figshare.com/articles/journal_contribution/An_in-frame_deletion_at_the_polymerase_active_site_of_POLD1_causes_a_multisystem_disorder_with_lipodystrophy/29728790 |
| OpenAlex ID | https://openalex.org/W2138182886 |
| PMID | 23770608 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Paolo Sbraccia](https://scholariq.org/researchers/paolo-sbraccia/)
- [Yukai Wang](https://scholariq.org/researchers/yukai-wang/)

## Paper primary topic

- [Nuclear Structure and Function](https://scholariq.org/topics/nuclear-structure-and-function/)

## Paper topics

- [Nuclear Structure and Function](https://scholariq.org/topics/nuclear-structure-and-function/)
- [RNA Research and Splicing](https://scholariq.org/topics/rna-research-and-splicing/)
- [DNA Repair Mechanisms](https://scholariq.org/topics/dna-repair-mechanisms/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.