| Literature DB >> 24127535 |
Evrim Özmen, Havva Akmaz Ünlü, Tülin Hakan Demirkan, Mehmet Tiftik, İbrahim Adaletli.
Abstract
There are various phenotypes of mutations in BCS1L which encode a mitochondrial inner membrane protein that facilitates the insertion of Rieske iron-sulfur protein into respiratory chain complex III. Herein we report the radiologic findings of a patient with bc1 synthesis-like (BCS1L) gene mutation who was presented with convulsions.Entities:
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Year: 2014 PMID： 24127535 DOI： 10.1515/jpem-2013-0364
Source DB: PubMed Journal: J Pediatr Endocrinol Metab ISSN： 0334-018X Impact factor: 1.634