A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot–Marie–Tooth type 2D in a Chinese family

Neurological Research

Volumn 37, Issue 9, 2015, Pages 782-787

  Sun, Aping ^a   Liu, Xiangyi ^a   Zheng, Mei ^a   Sun, Qingli ^a   Huang, Yu ^b   Fan, Dongsheng ^a  

^a PEKING UNIVERSITY THIRD HOSPITAL   (China)

^b PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

Author keywords

Axonal degeneration; Charcot Marie Tooth 2D; Glycyl tRNA synthetase; Next generation sequencing; Novel mutation

Indexed keywords

GLYCINE TRANSFER RNA LIGASE;

ADULT; ALLELE; ARTICLE; ATROPHY; CHINESE; CLINICAL ARTICLE; DNA SEQUENCE; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; MUSCLE TONE; MUSCLE WEAKNESS; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; EXOME; GENETICS; NERVE CONDUCTION; PATHOPHYSIOLOGY; PEDIGREE; YOUNG ADULT;

ASIAN CONTINENTAL ANCESTRY GROUP; CHARCOT-MARIE-TOOTH DISEASE; CHINA; EXOME; FEMALE; GLYCINE-TRNA LIGASE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEURAL CONDUCTION; PEDIGREE; YOUNG ADULT;

EID: 84937578781     PISSN: 01616412     EISSN: 17431328     Source Type: Journal    
DOI: 10.1179/1743132815Y.0000000055     Document Type: Article

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