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Haploinsufficiency of COQ4 causes coenzyme Q(10) deficiency
BACKGROUND: COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q(10) (CoQ(10)). A 3.9 Mb deletion of chromosome 9q34.13 was identified in a 3-year-old boy with mental retardation, encephalomyopathy and dysmorphic features. Because the deletion encompassed COQ...
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| Autors principals: | , , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3983946/ https://ncbi.nlm.nih.gov/pubmed/22368301 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100394 |
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