# 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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/demonstration-of-a-new-pathogenic-mutation-in-human-complex-i-deficiency-a-5-bp/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Lambert van den Heuvel,W. Ruitenbeek,Roel Smeets,Z Gelman-Kohan,Orly Elpeleg,Jan Loeffen,Frans J.M. Trijbels,Edwin C.M. Mariman,Diederik de Bruijn,Jan Smeıtınk |
| Citations | 265 |
| DOI | 10.1086/301716 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929707634909/pdf |
| OpenAlex ID | https://openalex.org/W1964102312 |
| PMID | 9463323 |
| Type | article |
| Year | 1998 |

## Paper authors

- [Orly Elpeleg](https://scholariq.org/researchers/orly-elpeleg/)

## Paper primary topic

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)

## Paper topics

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [ATP Synthase and ATPases Research](https://scholariq.org/topics/atp-synthase-and-atpases-research/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.