Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
Pediatr Neurol
; 114: 16-20, 2021 01.
Article
in En
| MEDLINE
| ID: mdl-33189025
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Respiratory Distress Syndrome, Newborn
/
Transcription Factors
/
Muscular Atrophy, Spinal
/
DNA-Binding Proteins
Type of study:
Diagnostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Pediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2021
Document type:
Article