A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Article
in En
| MEDLINE
| ID: mdl-27108798
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Aniridia
/
Cerebellar Ataxia
/
Inositol 1,4,5-Trisphosphate Receptors
/
Genes, Dominant
/
Intellectual Disability
/
Mutation
Limits:
Adolescent
/
Adult
/
Animals
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Am J Hum Genet
Year:
2016
Document type:
Article
Affiliation country:
United kingdom