Carregant...

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations

Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein synthesis as well as ribosome recycling. We repo...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Shahni, Rojeen, Wedatilake, Yehani, Cleary, Maureen A, Lindley, Keith J, Sibson, Keith R, Rahman, Shamima
Format: Artigo
Idioma:Inglês
Publicat: Wiley Periodicals, Inc 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3884767/
https://ncbi.nlm.nih.gov/pubmed/23918765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36065
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!