The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA for mitochondrial protein synthesis. Here we des...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Haematologica
Hlavní autoři: Riley, Lisa G., Heeney, Matthew M., Rudinger-Thirion, Joëlle, Frugier, Magali, Campagna, Dean R., Zhou, Ronghao, Hale, Gregory A., Hilliard, Lee M., Kaplan, Joel A., Kwiatkowski, Janet L., Sieff, Colin A., Steensma, David P., Rennings, Alexander J., Simons, Annet, Schaap, Nicolaas, Roodenburg, Richard J., Kleefstra, Tjitske, Arenillas, Leonor, Fita-Torró, Josep, Ahmed, Rasha, Abboud, Miguel, Bechara, Elie, Farah, Roula, Tamminga, Rienk Y. J., Bottomley, Sylvia S., Sanchez, Mayka, Huls, Gerwin, Swinkels, Dorine W., Christodoulou, John, Fleming, Mark D.
Médium: Artigo
Jazyk:Inglês
Vydáno: Ferrata Storti Foundation 2018
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6269294/
https://ncbi.nlm.nih.gov/pubmed/30026338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2017.182659
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky