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Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V

Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in fami...

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Podrobná bibliografie
Vydáno v:Case Rep Pediatr
Hlavní autoři: Chung, Peter, Northrup, Hope, Azmath, Misbah, Mosquera, Ricardo A., Moody, Shade, Yadav, Aravind
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5831963/
https://ncbi.nlm.nih.gov/pubmed/29527379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/8516285
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