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NDUFAF6 gene

Known as: MGC40214, CHROMOSOME 8 OPEN READING FRAME 38, C8ORF38 
 
National Institutes of Health

Papers overview

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Review
2019
Review
2019
AIM To perform a deep phenotype characterisation in a pedigree of 3 siblings with Leigh syndrome and compound heterozygous… Expand
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2019
2019
The average daily gain (ADG) and body weight (BW) are very important traits for breeding programs and for the meat production… Expand
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2018
2018
Biallelic mutations in NDUFAF6 have been identified as responsible for cases of autosomal recessive Leigh syndrome associated… Expand
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2017
2017
The NADH:ubiquinone oxidoreductase (complex I) is the largest member of the mitochondrial respiratory chain. Its FMN cofactor… Expand
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2017
2017
Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to… Expand
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2016
2016
We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age… Expand
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2016
2016
The Acadian variant of Fanconi Syndrome refers to a specific condition characterized by generalized proximal tubular dysfunction… Expand
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Highly Cited
2012
Highly Cited
2012
To extend understanding of the genetic architecture and molecular basis of type 2 diabetes (T2D), we conducted a meta-analysis of… Expand
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2011
2011
The assembly of complex I (NADH-ubiquinone oxidoreductase) is a complicated process, requiring the integration of 45 subunits… Expand
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Highly Cited
2008
Highly Cited
2008
Mitochondria are complex organelles whose dysfunction underlies a broad spectrum of human diseases. Identifying all of the… Expand
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