학술논문
Mutations in the palmitoyl-protein thioesterase gene ( PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
Document Type
Article
Author
Mitchison, Hannah M.; Hofmann, Sandra L.; Becerra, Carlos H. R.; Munroe, Patricia B.; Lake, Brian D.; Crow, Yanick J.; Stephenson, John B. P.; Williams, Ruth E.; Hofman, Irene L.; Taschner, Peter E. M.; Martin, Jean‐Jacques; Philippart, Michel; Andermann, Eva; Andermann, Frederick; Mole, Sara E.; Gardiner, R. Mark; O, Angela M.
Source
Human Molecular Genetics; Feb98, Vol. 7 Issue 2, p291, 7p
Subject
Language
ISSN
09646906
Abstract
Studies mutations in the palmitoyl-protein thioesterase gene causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Mode of inheritance; Accumulation of autofluorescent lipopigment in neurons; Clinical manifestations of the disease.