Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Am J Hum Genet
.
2016 Dec 1;99(6):1405.
doi: 10.1016/j.ajhg.2016.11.001.
Authors
Kyle Thompson
,
Homa Majd
,
Cristina Dallabona
,
Karit Reinson
,
Martin S King
,
Charlotte L Alston
,
Langping He
,
Tiziana Lodi
,
Simon A Jones
,
Aviva Fattal-Valevski
,
Nitay D Fraenkel
,
Ann Saada
,
Alon Haham
,
Pirjo Isohanni
,
Roshni Vara
,
Inês A Barbosa
,
Michael A Simpson
,
Charu Deshpande
,
Sanna Puusepp
,
Penelope E Bonnen
,
Richard J Rodenburg
,
Anu Suomalainen
,
Katrin Õunap
,
Orly Elpeleg
,
Ileana Ferrero
,
Robert McFarland
,
Edmund R S Kunji
,
Robert W Taylor
PMID:
27912046
PMCID:
PMC5142113
DOI:
10.1016/j.ajhg.2016.11.001
No abstract available
Publication types
Published Erratum
Grants and funding
MC_U105663139/MRC_/Medical Research Council/United Kingdom
NIHR-HCS-D12-03-04/DH_/Department of Health/United Kingdom
R01 NS083726/NS/NINDS NIH HHS/United States