# Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/deleterious-mutation-in-the-mitochondrial-arginyl-transfer-rna-synthetase-gene/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Simon Edvardson,Avraham Shaag,Olga A. Kolesnikova,John M. Gomori,Ivan Tarassov,Tom Einbinder,Ann Saada,Orly Elpeleg |
| Citations | 334 |
| DOI | 10.1086/521227 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929707630638/pdf |
| OpenAlex ID | https://openalex.org/W2036963968 |
| PMID | 17847012 |
| Type | article |
| Year | 2007 |

## Paper authors

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

## Paper primary topic

- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)

## Paper topics

- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

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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.