Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation

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Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1055/S-2006-924227
P698PubMed publication ID16773507

P50authorHana AntonickaQ45979561
P2093author name stringE. Shoubridge
A. Ohlenbusch
A. van Riesen
E. Wilichowski
P433issue2
P921main subjecthomozygosityQ114049690
P304page(s)88-94
P577publication date2006-04-01
P1433published inNeuropediatricsQ15763258
P1476titleMaternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation
P478volume37

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cites work (P2860)
Q35661916Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection
Q24648969Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease
Q39563211Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast
Q37214423Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: a result of failed tetraploidy correction?
Q48441450SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old
Q83843481SURF1-associated Leigh syndrome: a case series and novel mutations
Q39024278Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.
Q100944670Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation

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