Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Neuron
; 109(2): 241-256.e9, 2021 01 20.
Article
in En
| MEDLINE
| ID: mdl-33220177
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cerebellar Diseases
/
Spliceosomes
/
Cell Cycle Proteins
/
Peptidylprolyl Isomerase
/
RNA Splicing Factors
/
Microcephaly
/
Mutation
Type of study:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Animals
/
Female
/
Humans
/
Male
Language:
En
Journal:
Neuron
Year:
2021
Document type:
Article