Mutations in BCS1L, an assembly factor that facilitates the insertion of the catalytic Rieske Iron-Sulfur subunit into respiratory chain complex III, result in a wide variety of clinical phenotypes that range from the relatively mild BjΓΆrnstad syndrome to the severe GRACILE syndrome. To better under
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene
β Scribed by MA Ramos-Arroyo; J Hualde; A Ayechu; L De Meirleir; S Seneca; N Nadal; P Briones
- Book ID
- 110888770
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 70 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0009-9163
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