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Palmitoyl protein thioesterase 1 is targeted to the axons in neurons

✍ Scribed by Laura Ahtiainen; Otto P. Van Diggelen; Anu Jalanko; Outi Kopra


Book ID
102808280
Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
912 KB
Volume
455
Category
Article
ISSN
0021-9967

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Identification of three novel mutations
✍ Sophie Waliany; Amit K. Das; Ahmad Gaben; Krystyna E. Wisniewski; Sandra L. Hofm πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 32 KB πŸ‘ 2 views

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