Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.
about
Hikeshi modulates the proteotoxic stress response in human cells: Implication for the importance of the nuclear function of HSP70s.TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
P2860
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.
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
Leukoencephalopathy and early ...... mutation in the Hikeshi gene.
@en
type
label
Leukoencephalopathy and early ...... mutation in the Hikeshi gene.
@en
prefLabel
Leukoencephalopathy and early ...... mutation in the Hikeshi gene.
@en
P2093
P2860
P1476
Leukoencephalopathy and early ...... mutation in the Hikeshi gene.
@en
P2093
Ai Watanabe
Anastasia M Fedick
Avraham Shaag
Chaim Jalas
Hiroshi Mamada
Jutta Gärtner
Naoko Imamoto
Nathan R Treff
Orly Elpeleg
Shay Ben-Shachar
P2860
P304
P356
10.1136/JMEDGENET-2015-103232
P407
P577
2015-11-06T00:00:00Z