NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

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The molecular basis of cytochrome c oxidase (COX, complex IV) deficiency remains genetically undetermined in many cases. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous pedigree with isolated COX deficiency linked to a Leigh syndrome neurological phenotype. Unexpec...

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Detalles Bibliográficos
Autores principales: Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2013
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701321/
https://www.ncbi.nlm.nih.gov/pubmed/23746447
http://dx.doi.org/10.1016/j.celrep.2013.05.005
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