Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

Iron-sulfur (Fe-S) clusters are a class of highly conserved and ubiquitous prosthetic groups with unique chemical properties that allow the proteins that contain them, Fe-S proteins, to assist in various key biochemical pathways. Mutations in Fe-S proteins often disrupt Fe-S cluster assembly leading...

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Detalhes bibliográficos
Main Authors: Farhan, Sali M K, Wang, Jian, Robinson, John F, Lahiry, Piya, Siu, Victoria M, Prasad, Chitra, Kronick, Jonathan B, Ramsay, David A, Rupar, C Anthony, Hegele, Robert A
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Periodicals 2014
Assuntos:
Clinical Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3907916/
https://ncbi.nlm.nih.gov/pubmed/24498631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.46
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