LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

Pathogenic variants in mitochondrial aminoacyl-tRNA synthetases result in a broad range of mitochondrial respiratory chain disorders despite their shared role in mitochondrial protein synthesis. LARS2 encodes the mitochondrial leucyl-tRNA synthetase, which attaches leucine to its cognate tRNA. Seque...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JIMD Rep
Prif Awduron: Riley, Lisa G., Rudinger-Thirion, Joëlle, Schmitz-Abe, Klaus, Thorburn, David R., Davis, Ryan L., Teo, Juliana, Arbuckle, Susan, Cooper, Sandra T., Campagna, Dean R., Frugier, Magali, Markianos, Kyriacos, Sue, Carolyn M., Fleming, Mark D., Christodoulou, John
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Berlin Heidelberg 2015
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059179/
https://ncbi.nlm.nih.gov/pubmed/26537577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_515
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg