Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene.
J Neurol Sci
; 388: 4-6, 2018 05 15.
Article
in En
| MEDLINE
| ID: mdl-29627028
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Thiolester Hydrolases
/
Sequence Deletion
/
Gene Duplication
/
Membrane Proteins
/
Neuronal Ceroid-Lipofuscinoses
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
J Neurol Sci
Year:
2018
Document type:
Article
Country of publication:
Netherlands