A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

Author:

Ortega-Recalde Oscar,Fonseca Dora Janeth,Patiño Liliana Catherine,Atuesta Juan Jaime,Rivera-Nieto Carolina,Restrepo Carlos Martín,Mateus Heidi Eliana,van der Knaap Marjo S.,Laissue Paul

Funder

The Universidad del Rosario

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference22 articles.

1. Tissue-specific RNA surveillance?;Bateman;Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Hum. Mol. Genet.,2003

2. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency;Benit;Am. J. Hum. Genet.,2001

3. Energy converting NADH:quinone oxidoreductase (complex I);Brandt;Annu. Rev. Biochem.,2006

4. Siblings with leukoencephalopathy;Breningstall;Semin. Pediatr. Neurol.,2008

5. Prediction of human mRNA donor and acceptor sites from the DNA sequence;Brunak;J. Mol. Biol.,1991

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