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Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency

✍ Scribed by M. Carmen Gil-Borlado; Maritza González-Hoyuela; Alberto Blázquez; M. Teresa García-Silva; Toni Gabaldón; Javier Manzanares; Julia Vara; Miguel A. Martín; Sara Seneca; Joaquín Arenas; Cristina Ugalde


Book ID
116751881
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
652 KB
Volume
9
Category
Article
ISSN
1567-7249

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Cellular pathophysiological consequences
✍ María Morán; Lorena Marín-Buera; M. Carmen Gil-Borlado; Henry Rivera; Alberto Bl 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 503 KB

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 Björnstad syndrome to the severe GRACILE syndrome. To better under