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Paper Details

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
JIMD Rep
9
2017
Glu214Lys, Leigh Syndrome, Leigh syndrome, MRC, MRC enzyme complexes, Mitochondrial Disorder, NADH, NADH dehydrogenase (ubiquinone) flavoprotein 1 gene, NDUFV1, NDUFV1 protein, NM_, Patient, amino acid, c.1162+4A, c.640G, capillary, complex CI, complex I, complex I deficiency, complex IV, demyelination, dystonia, exon 8, fibroblast, gliosis, lactate, necrotising encephalomyopathy, nuclear- and mitochondrial-encoded genes, patient, patients, ptosis, scoliosis, seizures, spongiform lesions, symmetrical putaminal abnormalities, ubiquinone, vacuolation of
Author NameAffiliation
Yiran GuoCenter for Applied Genomics, The Children's Hospital of Philadelphia
Yiran GuoCenter for Applied Genomics, The Children's Hospital of Philadelphia
David R ThorburnMurdoch Childrens Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital
David R ThorburnUniversity of Melbourne
Brendan J KeatingCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
John ChristodoulouGenetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead
John ChristodoulouSydney Medical School, University of Sydney
John ChristodoulouSydney Medical School, University of Sydney
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