Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit
Titel:
Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit
Auteur:
van den Heuvel, Lambert Ruitenbeek, Wim Smeets, Roel Gelman-Kohan, Zully Elpeleg, Orly Loeffen, Jan Trijbels, Frans Mariman, Edwin de Bruijn, Diederik Smeitink, Jan