A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family-Reference-Cited by-同舟云学术

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

Published:2020-07-22 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Sepahvand Afrooz¹,Razmara Ehsan²^ORCID,Bitarafan Fatemeh³^ORCID,Galehdari Mohammad⁴^ORCID,Tavasoli Ali Reza⁵^ORCID,Almadani Navid⁶,Garshasbi Masoud⁷^ORCID

Affiliation:

1. Faculty of Advanced Science and Technology Tehran Medical Sciences Islamic Azad University Tehran Iran

2. Australian Regenerative Medicine Institute Monash University Clayton VIC Australia

3. Department of Cellular and Molecular Biology North Tehran Branch Islamic Azad University Tehran Iran

4. Department of Biology Faculty of Sciences North Tehran Branch Islamic Azad University Tehran Iran

5. Myelin Disorders Clinic Pediatric Neurology Division Children's Medical Center Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran

6. Department of Genetics Reproductive Biomedicine Research Center Royan Institute for Reproductive BiomedicineACECR Tehran Iran

7. Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Tehran Iran

Funder

Tarbiat Modares University

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1413

Reference63 articles.

1. The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity