Diagnostic NGS for Severe Neuromuscular Disorders.
Pediatr Neurol Briefs
; 29(11): 82, 2015 Nov.
Article
in En
| MEDLINE
| ID: mdl-26933539
ABSTRACT
Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted capture of 277 neuromuscular genes) in a heterogenous cohort of patients with neuromuscular disorders (NMD) presenting at or before birth.
Full text:
1
Database:
MEDLINE
Type of study:
Diagnostic_studies
Language:
En
Journal:
Pediatr Neurol Briefs
Year:
2015
Type:
Article
Affiliation country:
Vatican City