A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.
Neurobiol Dis
; 121: 187-204, 2019 01.
Article
in En
| MEDLINE
| ID: mdl-30296617
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Endosomes
/
Ataxia
/
Ocular Motility Disorders
/
Sodium-Hydrogen Exchangers
/
Genetic Diseases, X-Linked
/
Epilepsy
/
Gain of Function Mutation
/
Intellectual Disability
/
Microcephaly
/
Neurons
Type of study:
Risk_factors_studies
Limits:
Adult
/
Animals
/
Humans
/
Male
Language:
En
Journal:
Neurobiol Dis
Journal subject:
NEUROLOGIA
Year:
2019
Type:
Article
Affiliation country:
Canada