Article
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
Human mutation - 1 Feb 2000
Waliany S, Das A K, Gaben A, Wisniewski K E, Hofmann S L
Abstract excerpt
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 mutation was observed in an African-American child. The G118D and Q291X mutations occurred in infantile-onset...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.