Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
about
Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.Lamin B1 and lamin B2 are long-lived proteins with distinct functions in retinal development.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Lamin in inflammation and aging.Alzheimer's disease: An acquired neurodegenerative laminopathyNuclear envelopathies: a complex LINC between nuclear envelope and pathology.Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy.
P2860
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P2860
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
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
Mutation of the nuclear lamin ...... us epilepsy with early ataxia.
@en
type
label
Mutation of the nuclear lamin ...... us epilepsy with early ataxia.
@en
prefLabel
Mutation of the nuclear lamin ...... us epilepsy with early ataxia.
@en
P2093
P2860
P50
P356
P1476
Mutation of the nuclear lamin ...... nus epilepsy with early ataxia
@en
P2093
A Eliot Shearer
Anna-Elina Lehesjoki
Hans-Henrik M Dahl
Harald Herrmann
Ingrid E Scheffer
John A Damiano
Melanie Bahlo
Monika Mauermann
Richard J Leventer
P2860
P304
P356
10.1093/HMG/DDV171
P50
P577
2015-05-07T00:00:00Z