Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.

Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.

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http://www.wikidata.org/entity/Q43073942
Alpha thalassaemia-mental retardation, X linkedMechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exonThe genetic basis of non-syndromic intellectual disability: a reviewNovel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseHuman SNPs resulting in premature stop codons and protein truncation.Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.Blocking promiscuous activation at cryptic promoters directs cell type-specific gene expression.Retinal interneuron survival requires non-cell-autonomous Atrx activity.Reduced expression of the ATRX gene, a chromatin-remodeling factor, causes hippocampal dysfunction in mice.SA4503, A Potent Sigma-1 Receptor Ligand, Ameliorates Synaptic Abnormalities and Cognitive Dysfunction in a Mouse Model of ATR-X Syndrome
P2860

Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.

Item
http://www.wikidata.org/entity/Q43073942
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Attenuation of an amino-termin ...... e of translational initiation.
@en
Attenuation of an amino-termin ...... e of translational initiation.
@nl
type
label
Attenuation of an amino-termin ...... e of translational initiation.
@en
Attenuation of an amino-termin ...... e of translational initiation.
@nl
prefLabel
Attenuation of an amino-termin ...... e of translational initiation.
@en
Attenuation of an amino-termin ...... e of translational initiation.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Attenuation of an amino-termin ...... de of translational initiation
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932