A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. [electronic resource]
Producer: 20140903Description: 23-7 p. digitalISSN:- 1875-8908
- Adult
- Alzheimer Disease -- genetics
- Amino Acid Sequence
- Computer Simulation
- Dementia -- genetics
- Diagnosis, Differential
- Disease Progression
- Exome -- genetics
- Fatal Outcome
- Fibroblasts -- ultrastructure
- Genome-Wide Association Study
- Humans
- Lysosomes -- ultrastructure
- Male
- Models, Genetic
- Mutation
- Neuronal Ceroid-Lipofuscinoses -- pathology
- Pedigree
- Presenilin-1 -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article
There are no comments on this title.
Log in to your account to post a comment.