Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy.
Hum Mol Genet
; 33(13): 1120-1130, 2024 Jun 21.
Article
in En
| MEDLINE
| ID: mdl-38520738
Full text:
1
Database:
MEDLINE
Main subject:
Spinal Muscular Atrophies of Childhood
/
RNA Splicing
/
Survival of Motor Neuron 2 Protein
/
Mutation
Limits:
Female
/
Humans
/
Infant
/
Newborn
Language:
En
Journal:
Hum Mol Genet
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Year:
2024
Type:
Article