Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Am J Hum Genet
; 102(6): 1126-1142, 2018 06 07.
Article
in En
| MEDLINE
| ID: mdl-29805043
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Molecular Chaperones
/
Genetic Predisposition to Disease
/
Nonsense Mediated mRNA Decay
/
Mutation
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Am J Hum Genet
Year:
2018
Document type:
Article
Country of publication:
United States