Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease-Reference-Cited by-同舟云学术

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease

Published:2018-07-30 Issue:10 Volume:39 Page:1355-1359
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zadjali Fahad¹,Al-Yahyaee Aida²,Al-Nabhani Maryam³,Al-Mubaihsi Saif⁴,Gujjar Arunodaya⁴,Raniga Sameer⁵,Al-Maawali Almundher²³^ORCID

Affiliation:

1. Department of Biochemistry, College of Medicine and Health Sciences; Sultan Qaboos University; Muscat Oman

2. Department of Genetics, College of Medicine and Health Sciences; Sultan Qaboos University; Muscat Oman

3. Genetic and Developmental Medicine Clinic; Sultan Qaboos University Hospital; Muscat Oman

4. Department of Medicine; Sultan Qaboos University; Muscat Oman

5. Department of Radiology and Molecular Imaging; Sultan Qaboos University; Muscat Oman

Funder

Sultan Qaboos University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23595/fullpdf

Reference18 articles.

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2. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease;Antonellis;Human Mutation,2018

3. Requirement of aminoacyl-tRNA synthetases for gametogenesis and embryo development in Arabidopsis;Berg;Plant Journal,2005

4. Structure of human cytosolic phenylalanyl-tRNA synthetase: Evidence for kingdom-specific design of the active sites and tRNA binding patterns;Finarov;Structure,2010

5. In silico detection of tRNA sequence features characteristic to aminoacyl-tRNA synthetase class membership;Jakó;Nucleic Acids Research,2007

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