A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia.
Indian J Pediatr
; 86(7): 664-665, 2019 07.
Article
in En
| MEDLINE
| ID: mdl-31089940
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ciliary Motility Disorders
/
Codon, Nonsense
/
Homozygote
/
Microfilament Proteins
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Indian J Pediatr
Year:
2019
Document type:
Article
Affiliation country:
India