Fatty Acyl-CoA Reductase 1 Deficiency
Investigators from Erlangen, Germany; Calgary, CA; and Kafranbel, Syria, identified mutations in the gene, fatty acyl-CoA reductase 1 (FAR1) deficiency, adding to three other genes involved in plasmalogen biosynthesis, in two families affected by severe intellectual disability, early-onset epilepsy,...
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| Format: | Artigo |
| Idioma: | Inglês |
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Pediatric Neurology Briefs Publishers
2015-01-01
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| Col·lecció: | Pediatric Neurology Briefs |
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| Accés en línia: | https://www.pediatricneurologybriefs.com/articles/32 |
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