Cargando…
Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations
Autores principales: | Sun, Jian, Quan, Chao, Luo, Su-Shan, Zhou, Lei, Zhao, Chong-Bo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742941/ https://www.ncbi.nlm.nih.gov/pubmed/29237946 http://dx.doi.org/10.4103/0366-6999.220300 |
Ejemplares similares
-
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies
por: Wang, Xingao, et al.
Publicado: (2019) -
Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy
por: Fan, Yan, et al.
Publicado: (2022) -
Impact of alanyl-tRNA synthetase editing deficiency in yeast
por: Zhang, Hong, et al.
Publicado: (2021) -
A naturally occurring mini-alanyl-tRNA synthetase
por: Antika, Titi Rindi, et al.
Publicado: (2023) -
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
por: Marten, Lara M., et al.
Publicado: (2020)