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,...
| Veröffentlicht in: | Pediatric neurology briefs. - 1997. - 29(2015), 1 vom: 01. Jan., Seite 6 |
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| Format: | Online-Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2015
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| Zugriff auf das übergeordnete Werk: | Pediatric neurology briefs |
| Schlagworte: | Journal Article Developmental delay Fatty Acyl-CoA Reductase 1 Peroxisomal disorder |
| Online verfügbar |
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