Identification of new and common mutations in the EPM2A gene in Lafora disease.

Identification of new and common mutations in the EPM2A gene in Lafora disease.

Item
http://www.wikidata.org/entity/Q33834500
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomesLafora disease: epidemiology, pathophysiology and management.Advances in the genetics of progressive myoclonus epilepsy.Recent developments in the quest for myoclonic epilepsy genes.Relationship between glycogen accumulation and the laforin dual specificity phosphatase.Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.Broad spectrum of hepatocyte inclusions in humans, animals, and experimental models.Glycogen metabolism in tissues from a mouse model of Lafora disease.Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.A century of achievements.Unusual presentation of Lafora's disease.
P2860

Identification of new and common mutations in the EPM2A gene in Lafora disease.

Item
http://www.wikidata.org/entity/Q33834500
description
2000 nî lūn-bûn
@nan
2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Identification of new and common mutations in the EPM2A gene in Lafora disease.
@ast
Identification of new and common mutations in the EPM2A gene in Lafora disease.
@en
type
label
Identification of new and common mutations in the EPM2A gene in Lafora disease.
@ast
Identification of new and common mutations in the EPM2A gene in Lafora disease.
@en
prefLabel
Identification of new and common mutations in the EPM2A gene in Lafora disease.
@ast
Identification of new and common mutations in the EPM2A gene in Lafora disease.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Identification of new and common mutations in the EPM2A gene in Lafora disease
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698