Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

Human Molecular Genetics

Volumn 26, Issue R2, 2017, Pages R114-R127

  Meyer Schuman, Rebecca ^a   Antonellis, Anthony ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; AXON; GAIN OF FUNCTION MUTATION; GENE MUTATION; HUMAN; MOLECULAR PATHOLOGY; NEUROPATHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; ALLELE; DOMINANT GENE; GENETICS; HETEROZYGOTE; METABOLISM; MUTATION; PHYSIOLOGY; PROTEIN SYNTHESIS; RECESSIVE GENE;

ALLELES; AMINO ACYL-TRNA SYNTHETASES; GENES, DOMINANT; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MUTATION; PHENOTYPE; PROTEIN BIOSYNTHESIS;

EID: 85030720145     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddx231     Document Type: Review

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