FARSA mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by FARSB defects-Reference-Cited by-同舟云学术

FARSA mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by FARSB defects

Published:2019-08-06 Issue:5 Volume:96 Page:468-472
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Krenke Katarzyna¹^ORCID,Szczałuba Krzysztof²^ORCID,Bielecka Teresa¹^ORCID,Rydzanicz Małgorzata²^ORCID,Lange Joanna¹^ORCID,Koppolu Agnieszka²³^ORCID,Płoski Rafał²^ORCID

Affiliation:

1. Department of Pediatric Pneumonology and AllergyMedical University of Warsaw Warsaw Poland

2. Department of Medical GeneticsMedical University of Warsaw Warsaw Poland

3. Postgraduate School of Molecular MedicineMedical University of Warsaw Warsaw Poland

Funder

Narodowe Centrum Nauki

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13614

Reference15 articles.

1. The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

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

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

4. Aminoacyl-tRNA synthetase deficiencies in search of common themes

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

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