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Functional characterization of the c. 462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.

Authors :
Assereto, S.
Robbiano, A.
Di Rocco, M.
Rossi, A.
Cassandrini, D.
Panicucci, C.
Brigati, G.
Biancheri, R.
Bruno, C.
Minetti, C.
Trucks, H.
Sander, T.
Zara, F.
Gazzerro, E.
Source :
Clinical Genetics; Jul2014, Vol. 86 Issue 1, p99-101, 3p
Publication Year :
2014

Abstract

A letter to the editor discussing identification and functional characterization of c.462delA mutation of the CI subunit gene NADH dehydrogenase (ubiquinone) Fe-S protein 4 (NDUFS4) in two siblings with Leigh syndrome is presented.

Details

Language :
English
ISSN :
00099163
Volume :
86
Issue :
1
Database :
Complementary Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
96323904
Full Text :
https://doi.org/10.1111/cge.12248