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: | Knjiga |
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Pediatric Neurology Briefs Publishers,
2015-01-01T00:00:00Z.
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| Sažetak: | 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, microcephaly, congenital cataracts, growth retardation, and spasticity. |
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| Opis predmeta: | 1043-3155 2166-6482 10.15844/pedneurbriefs-29-1-5 |