Eight unrelated children with progressive neurological deterioration and granular osmiophilic deposits (GROD) due to an underlying palmitoyl-protein thioesterase deficiency were analyzed for mutations in the PPT1 gene. Three novel mutations (G118D, Q291X and F84del) were identified. The novel Q291X
β¦ LIBER β¦
Altered protein patterns in brains of children with neuronal ceroid lipofuscinosis
β Scribed by Wisniewski, K. E. ;Gordon-Majszak, W. ;Maslinski, S. ;Heaney-Kieras, J.
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 714 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0148-7299
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