The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUC...
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
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London: BMJ Publishing Group Ltd
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English
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London: BMJ Publishing Group Ltd
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BackgroundSuccinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 patients until now. Mutations in SUCLG1, encoding the α subunit of the enzyme, have been described in tw...
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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
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TN_cdi_hal_primary_oai_HAL_hal_00557375v1
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00557375v1
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.2009.073445
