Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

Methods

Volumn 113, Issue , 2017, Pages 139-151

  Oprescu, Stephanie N ^a   Griffin, Laurie B ^a   Beg, Asim A ^a   Antonellis, Anthony ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Aminoacyl tRNA synthetases; Charcot Marie Tooth (CMT) disease; Functional evaluation of disease associated mutations; Mendelian disease; Neurodevelopmental disease; Peripheral neuropathy

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE; PYROPHOSPHATE;

ALLELE; AMINOACYLATION; ARS GENE; BIOASSAY; BIOCHEMISTRY; DISEASE ASSOCIATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; NONHUMAN; PATHOGENICITY; PHENOTYPE; PREDICTION; PROTEIN FUNCTION; REVIEW; SEQUENCE ANALYSIS; VALIDATION PROCESS; WHOLE EXOME SEQUENCING; YEAST COMPLEMENTATION ASSAY; ANIMAL; CYTOPLASM; DISEASE MODEL; ENZYMOLOGY; GENE EXPRESSION; GENETIC PREDISPOSITION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; METABOLISM; MITOCHONDRION; MOUSE; MUTATION; PATHOLOGY; PEDIGREE; PENETRANCE; PROGNOSIS;

AMINO ACYL-TRNA SYNTHETASES; ANIMALS; CYTOPLASM; DISEASE MODELS, ANIMAL; GENE EXPRESSION; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MICE; MITOCHONDRIA; MUTATION; PEDIGREE; PENETRANCE; PHENOTYPE; PROGNOSIS;

EID: 85007256444     PISSN: 10462023     EISSN: 10959130     Source Type: Journal    
DOI: 10.1016/j.ymeth.2016.11.013     Document Type: Review

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