A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype

A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype

Background: The human mitochondrial methionyl-tRNA is crucial for mitochondrial translation, serving as both initiator and elongator in polypeptide chains. The MARS2 gene is responsible for binding methionine to mitochondrial tRNA. The clinical characteristics of MARS2 intragenic variants are still...

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Bibliographic Details
Main Authors: Hiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, Gen Nishimura, Yasushi Okazaki, Kei Murayama, Mitsuru Kubota, Akira Ohtake
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Amino-acyl tRNA synthetase
MARS2
Mitochondria
Spondylar dysplasia
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000138
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