Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Hum Mol Genet. 2019 02 15; 28(4):525-538.

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subject areas

Adult
Catalytic Domain
Child, Preschool
Female
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Hearing Loss, Sensorineural
Heterozygote
Homozygote
Humans
Infant
Infant, Newborn
Loss of Function Mutation
Male
Mutation
Pedigree
Phenotype
Severity of Illness Index
Tyrosine-tRNA Ligase
Yeasts

authors with profiles

Mark A. Yoder