Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

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Publication year
2016
Author(s)
Thompson, K.
Majd, H.
Dallabona, C.
Reinson, K.
King, M.S.
Alston, C.L.
He, L.
Lodi, T.
Jones, S.A.
Fattal-Valevski, A.
Fraenkel, N.D.
Saada, A.
Haham, A.
Isohanni, P.
Vara, R.
Barbosa, I.A.
Simpson, M.A.
Deshpande, C.
Puusepp, S.
Bonnen, P.E.
Rodenburg, R.J.T.
Suomalainen, A.
Õunap, K.
Elpeleg, O.
Ferrero, I.
McFarland, R.
Kunji, E.R.
Taylor, R.W.
Source
American Journal of Human Genetics, 99, 4, (2016), pp. 860-876
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DOI
Publication type
Article / Letter to editor
Please use this identifier to cite or link to this item: https://hdl.handle.net/2066/171353   https://hdl.handle.net/2066/171353
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