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Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency

✍ Scribed by R. Kälviäinen; K. Eriksson; M. Losekoot; I. Sorri; I. Harvima; P. Santavuori; I. Järvelä; T. Autti; R. Vanninen; T. Salmenperä; O. P. Van Diggelen


Book ID
111065027
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
506 KB
Volume
14
Category
Article
ISSN
1351-5101

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Identification of three novel mutations
✍ Sophie Waliany; Amit K. Das; Ahmad Gaben; Krystyna E. Wisniewski; Sandra L. Hofm 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 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