Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease
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DOI: 10.1093/hmg/ddz202
Abstract: Abstract BCS1L encodes a homolog of the Saccharomyces cerevisiae bcs1 protein, which has a known role in the assembly of Complex III of the mitochondrial respiratory chain. Phenotypes reported in association with pathogenic BCS1L variants… read more here.
Keywords: respiratory chain; complex iii; genetic investigations; bcs1l ... See more keywords