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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
Journal article   Open access  Peer reviewed

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Dana Safka Brozkova, Tine Deconinck, Laurie Beth Griffin, Andreas Ferbert, Jana Haberlova, Radim Mazanec, Petra Lassuthova, Christian Roth, Thanita Pilunthanakul, Bernd Rautenstrauss, …
Brain (London, England : 1878), Vol.138(Pt 8), pp.2161-2172
2015-08
PMCID: PMC4840952
PMID: 26072516

Abstract

Pedigree Humans Female Hereditary Sensory and Autonomic Neuropathies - genetics Male Genetic Linkage - genetics Mutation - genetics Peripheral Nervous System Diseases - genetics Histidine-tRNA Ligase - genetics Charcot-Marie-Tooth Disease - genetics
url
https://doi.org/10.1093/brain/awv158View
Published (Version of record) Open

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2 Chemistry
2.170 Nucleic Acids Chemistry
2.170.185 Ribosome
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Clinical Neurology
Neurosciences
ESI research areas
Neuroscience & Behavior

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