Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3
about
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomesThe thymine DNA glycosylase MBD4 represses transcription and is associated with methylated p16(INK4a) and hMLH1 genesIdentification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)TRAPPII subunits are required for the specificity switch of a Ypt-Rab GEF.The TRAPP complex: insights into its architecture and functionHoloprosencephaly.Conservation of the TRAPPII-specific subunits of a Ypt/Rab exchanger complexIdentification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardationComputer aided identification of sodium channel blockers in the clinical treatment of epilepsy using molecular docking tools.The state of the art in the genetic analysis of the epilepsiesDirect isolation of human transcribed sequences from yeast artificial chromosomes through the application of RNA fingerprintingSIDL interacts with the dendritic targeting motif of Shal (K(v)4) K+ channels in DrosophilaBlinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies.Severe malabsorption in autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy syndrome successfully treated with immunosuppression.
P2860
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P2860
Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3
description
1995 nî lūn-bûn
@nan
1995 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@ast
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@en
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@en-gb
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@nl
type
label
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@ast
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@en
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@en-gb
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@nl
prefLabel
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@ast
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@en
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@en-gb
Isolation and characterization ...... myoclonus epilepsy on 21q22.3
@nl
P2093
P356
P1476
Isolation and characterization ...... myoclonus epilepsy on 21q22.3.
@en
P2093
C Gadomski
J R Korenberg
S Mitchell
P304
P356
10.1093/HMG/4.4.709
P407
P577
1995-04-01T00:00:00Z