Home
About
Overview
Sharing Data
ORCID
Help
History (1)
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
See All Pages
Find People
Find Everything
Login
to edit your profile (add a photo, awards, links to other websites, etc.)
Edit My Profile
My Person List (
0
)
Return to Top
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 2015 Jul; 60(7):363-9.
View in:
PubMed
subject areas
Arginine-tRNA Ligase
Base Sequence
Cerebellar Diseases
Child, Preschool
DNA Mutational Analysis
Female
Genetic Association Studies
Humans
Infant
Male
Molecular Sequence Data
Mutation, Missense
Point Mutation
Promoter Regions, Genetic
authors with profiles
Soma Das
Daniela Del Gaudio