Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.
about
Alpha thalassaemia-mental retardation, X linkedThe chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesisFragile X and X-linked intellectual disability: four decades of discoveryX-linked mental retardation (XLMR): from clinical conditions to cloned genes.Syndromic XLMR genes (MRXS): update 2000.Molecular-clinical spectrum of the ATR-X syndrome.ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X proteinSegregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.Cloning and characterization of the murine Imitation Switch (ISWI) genes: differential expression patterns suggest distinct developmental roles for Snf2h and Snf2l.Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.Expanding phenotype of XNP mutations: mild to moderate mental retardation.Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.X-linked mental retardationDuplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene
P2860
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P2860
Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.
description
1999 nî lūn-bûn
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1999年の論文
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1999年学术文章
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1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
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1999年學術文章
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1999年學術文章
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name
Mutation of the XNP/ATR-X gene ...... lved in the inactivation bias.
@en
Mutation of the XNP/ATR-X gene ...... lved in the inactivation bias.
@nl
type
label
Mutation of the XNP/ATR-X gene ...... lved in the inactivation bias.
@en
Mutation of the XNP/ATR-X gene ...... lved in the inactivation bias.
@nl
prefLabel
Mutation of the XNP/ATR-X gene ...... lved in the inactivation bias.
@en
Mutation of the XNP/ATR-X gene ...... lved in the inactivation bias.
@nl
P2093
P356
P1476
Mutation of the XNP/ATR-X gene ...... lved in the inactivation bias.
@en
P2093
P304
P356
10.1086/302499
P407
P577
1999-08-01T00:00:00Z