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.

We report the cDNA cloning, chromosomal localization, and a mutation in the human nuclear gene encoding the 18-kD (AQDQ) subunit of the mitochondrial respiratory chain complex I. The cDNA has an open reading frame of 175 amino acids and codes for a protein with a molecular mass of 23.2 kD. Its gene...

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Main Authors: van den Heuvel, L, Ruitenbeek, W, Smeets, R, Gelman-Kohan, Z, Elpeleg, O, Loeffen, J, Trijbels, F, Mariman, E, de Bruijn, D, Smeitink, J
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376892/
https://ncbi.nlm.nih.gov/pubmed/9463323
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