Demonstration of the first pathogenic mutation in human complex I deficiency: a 5 basepair duplication in the nuclear encoded 18 kDa subunit

Date

Heuvel, L.P.W.J. Bert

Ruitenbeek, W. Wim

Smeets, R.J.P. Roel

Loeffen, J.L.C.M. Jan

Gelham-Kohan, Z.

Elpeleg, O.N.

Trijbels, J.M.F. Frans

Mariman, E.C.M.

Bruijn, D.R.H. Diederik

Sengers, R.C.A.