Associated Papers
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
Amate-García G et al.
International Journal of Molecular Sciences, 2023
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.
Reinson K et al.
European Journal of Medical Genetics, 2019
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
van Rahden VA et al.
American Journal of Human Genetics, 2015
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