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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Abstract:

Charcot-Marie-Tooth (CMT) disease comprises a genetically and clinically heterogeneous group of peripheral nerve disorders characterized by impaired distal motor and sensory function. Mutations in three genes encoding aminoacyl-tRNA synthetases (ARSs) have been implicated in CMT disease primarily associated with an axonal pathology. ARSs are ubiquitously expressed, essential enzymes responsible for charging tRNA molecules with their cognate amino acids. To further explore the role of ARSs in ...

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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2010.09.008

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Journal:
American journal of human genetics
Volume:
87
Issue:
4
Pages:
560-566
Publication date:
2010-10-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:a3b27acb-94e4-4473-9f91-9a3c9f308cf2
Source identifiers:
104753
Local pid:
pubs:104753

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