# Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/compound-heterozygosity-for-loss-of-function-lysyl-trna-synthetase-mutations-in/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Heather M. McLaughlin,Reiko Sakaguchi,Cuiping Liu,Takao Igarashi,Davut Pehli̇van,Kristine Chu,Ram Iyer,Pedro Cruz,Praveen F. Cherukuri,Nancy F. Hansen,James C. Mullikin,Leslie G. Biesecker,Thomas E. Wilson,Victor Ionâşescu,Garth A. Nicholson,Charles Searby,Kevin Talbot,Jeffery M. Vance,Stephan Züchner,Kinga Szigeti,James R. Lupski,Ya‐Ming Hou,Eric D. Green,Anthony Antonellis |
| Citations | 202 |
| DOI | 10.1016/j.ajhg.2010.09.008 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine,Neuroscience |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929710004763/pdf |
| OpenAlex ID | https://openalex.org/W2062517369 |
| PMID | 20920668 |
| Type | article |
| Year | 2010 |

## Paper authors

- [Davut Pehli̇van](https://scholariq.org/researchers/davut-pehlivan/)

## Paper primary topic

- [Hereditary Neurological Disorders](https://scholariq.org/topics/hereditary-neurological-disorders/)

## Paper topics

- [Hereditary Neurological Disorders](https://scholariq.org/topics/hereditary-neurological-disorders/)
- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)
- [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.