Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
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The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett SyndromeMice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patientsTrends in the diagnosis of Rett syndrome in Australia.Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenesMeCP2 dysfunction in humans and mice.Rett syndrome: new clinical and molecular insights.MECP2 mutations in males.14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.Rett syndrome and MeCP2.Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients.Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.Disruption of MeCP2 attenuates circadian rhythm in CRISPR/Cas9-based Rett syndrome model mouse.Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.A novel algorithm for identification of activated cryptic 5' splice sites.
P2860
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P2860
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
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2005 nî lūn-bûn
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2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի փետրվարին հրատարակված գիտական հոդված
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2005年の論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年论文
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Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
@ast
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
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type
label
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
@ast
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
@en
prefLabel
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
@ast
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
@en
P2093
P921
P356
P1476
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome
@en
P2093
I B Van den Veyver
P356
10.1136/JMG.2004.026161
P407
P50
P577
2005-02-01T00:00:00Z