Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease-Reference-Cited by-同舟云学术

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease

Author:

Antonellis Anthony¹²³^ORCID,Oprescu Stephanie N.¹,Griffin Laurie B.³⁴,Heider Amer⁵,Amalfitano Andrea⁶⁷,Innis Jeffrey W.¹⁸

Affiliation:

1. Department of Human Genetics; University of Michigan Medical School; Ann Arbor Michigan

2. Department of Neurology; University of Michigan Medical School; Ann Arbor Michigan

3. Cellular and Molecular Biology Program; University of Michigan Medical School; Ann Arbor Michigan

4. Medical Scientist Training Program; University of Michigan Medical School; Ann Arbor Michigan

5. Department of Pathology; University of Michigan Medical School; Ann Arbor Michigan

6. Department of Pediatrics; College of Osteopathic Medicine; Michigan State University; East Lansing Michigan

7. Department of Microbiology and Molecular Genetics; Michigan State University; East Lansing Michigan

8. Department of Pediatrics; Division of Genetics; Metabolism, and Genomic Medicine; University of Michigan Medical School; Ann Arbor Michigan

Funder

National Institute of Neurological Disorders and Stroke

National Institute of General Medical Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference36 articles.

4. The role of aminoacyl-tRNA synthetases in genetic diseases;Antonellis;Annual Review of Genomics and Human Genetics,2008

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