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

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

Abstract 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 assembl...

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Bibliographic Details
Main Authors: Sali M. K. Farhan, Jian Wang, John F. Robinson, Piya Lahiry, Victoria M. Siu, Chitra Prasad, Jonathan B. Kronick, David A. Ramsay, C. Anthony Rupar, Robert A. Hegele
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Autozygosity mapping
Fe‐S proteins
mitochondrial complex deficiency
NFS1
whole‐exome sequencing.
Online Access:https://doi.org/10.1002/mgg3.46

Internet

https://doi.org/10.1002/mgg3.46

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