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.

Item
http://www.wikidata.org/entity/Q41158693
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?RARS2 mutations in a sibship with infantile spasms.Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Human aminoacyl-tRNA synthetases in diseases of the nervous system.Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature.Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
P2860

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Item
http://www.wikidata.org/entity/Q41158693
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
A novel mutation in the promot ...... ar hypoplasia in two siblings.
@en
type
label
A novel mutation in the promot ...... ar hypoplasia in two siblings.
@en
prefLabel
A novel mutation in the promot ...... ar hypoplasia in two siblings.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
A novel mutation in the promot ...... lar hypoplasia in two siblings
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932