A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
about
Alpha thalassaemia-mental retardation, X linkedThe ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodiesThe chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesisDisruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesFragile X and X-linked intellectual disability: four decades of discoveryATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cellsProtein complex of Drosophila ATRX/XNP and HP1a is required for the formation of pericentric beta-heterochromatin in vivoMutations in the DLG3 gene cause nonsyndromic X-linked mental retardationThe genetic basis of non-syndromic intellectual disability: a reviewDisruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.Genetic effects on human cognition: lessons from the study of mental retardation syndromesX linked mental retardation: a clinical guide.Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Genetic basis of cognitive disability.ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.The Role of ATRX in Glioma Biology.
P2860
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P2860
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
description
2000 nî lūn-bûn
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2000年の論文
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年學術文章
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name
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
@en
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
@nl
type
label
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
@en
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
@nl
prefLabel
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
@en
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
@nl
P2093
P1433
P1476
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
@en
P2093
P304
P356
10.1002/1531-8249(200001)47:1<117::AID-ANA20>3.3.CO;2-1
P577
2000-01-01T00:00:00Z